A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.
A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.
A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.
An abnormal hemoglobin that results from the substitution of lysine for glutamic acid at position 26 of the beta chain. It is most frequently observed in southeast Asian populations.
Therapy of heavy metal poisoning using agents which sequester the metal from organs or tissues and bind it firmly within the ring structure of a new compound which can be eliminated from the body.
A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.
Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.
An excessive accumulation of iron in the body due to a greater than normal absorption of iron from the gastrointestinal tract or from parenteral injection. This may arise from idiopathic hemochromatosis, excessive iron intake, chronic alcoholism, certain types of refractory anemia, or transfusional hemosiderosis. (From Churchill's Illustrated Medical Dictionary, 1989)
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
Organic chemicals that form two or more coordination links with an iron ion. Once coordination has occurred, the complex formed is called a chelate. The iron-binding porphyrin group of hemoglobin is an example of a metal chelate found in biological systems.
An adult hemoglobin component normally present in hemolysates from human erythrocytes in concentrations of about 3%. The hemoglobin is composed of two alpha chains and two delta chains. The percentage of HbA2 varies in some hematologic disorders, but is about double in beta-thalassemia.
Members of the alpha-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 16. They include zeta-globin and alpha-globin. There are also pseudogenes of zeta (theta-zeta) and alpha (theta-alpha) in the cluster. Adult HEMOGLOBIN is comprised of 2 alpha-globin chains and 2 beta-globin chains.
The major component of hemoglobin in the fetus. This HEMOGLOBIN has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by LEUKEMIA and several types of ANEMIA.
The introduction of whole blood or blood component directly into the blood stream. (Dorland, 27th ed)
Natural product isolated from Streptomyces pilosus. It forms iron complexes and is used as a chelating agent, particularly in the mesylate form.
Pyridine derivatives with one or more keto groups on the ring.
Members of the beta-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 11. They include epsilon-globin, gamma-globin, delta-globin and beta-globin. There is also a pseudogene of beta (theta-beta) in the gene cluster. Adult HEMOGLOBIN is comprised of two ALPHA-GLOBIN chains and two beta-globin chains.
A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.
An abnormal hemoglobin composed of four beta chains. It is caused by the reduced synthesis of the alpha chain. This abnormality results in ALPHA-THALASSEMIA.
I'm sorry for any confusion, but "Sicily" is not a medical term that has a definition in the field of medicine. Sicily is actually the largest island in the Mediterranean Sea and it is located off the southern coast of Italy. If you have any questions related to medical terminology or health-related topics, I would be happy to help!
A group of abnormal hemoglobins with similar electrophoretic characteristics. They have faster electrophoretic mobility and different amino acid substitutions in either the alpha or beta chains than normal adult hemoglobin. Some of the variants produce hematologic abnormalities, others result in no clinical disorders.
A metallic element with atomic symbol Fe, atomic number 26, and atomic weight 55.85. It is an essential constituent of HEMOGLOBINS; CYTOCHROMES; and IRON-BINDING PROTEINS. It plays a role in cellular redox reactions and in the transport of OXYGEN.
An individual in which both alleles at a given locus are identical.
The number of RED BLOOD CELLS per unit volume in a sample of venous BLOOD.
Oxygen-carrying RED BLOOD CELLS in mammalian blood that are abnormal in structure or function.
Iron-containing proteins that are widely distributed in animals, plants, and microorganisms. Their major function is to store IRON in a nontoxic bioavailable form. Each ferritin molecule consists of ferric iron in a hollow protein shell (APOFERRITINS) made of 24 subunits of various sequences depending on the species and tissue types.
The condition of being heterozygous for hemoglobin S.
An individual having different alleles at one or more loci regarding a specific character.
ERYTHROCYTE size and HEMOGLOBIN content or concentration, usually derived from ERYTHROCYTE COUNT; BLOOD hemoglobin concentration; and HEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC).
The oxygen-carrying proteins of ERYTHROCYTES. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements.
Conditions in which there is a generalized increase in the iron stores of body tissues, particularly of liver and the MONONUCLEAR PHAGOCYTE SYSTEM, without demonstrable tissue damage. The name refers to the presence of stainable iron in the tissue in the form of hemosiderin.
Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains.
Immature ERYTHROCYTES. In humans, these are ERYTHROID CELLS that have just undergone extrusion of their CELL NUCLEUS. They still contain some organelles that gradually decrease in number as the cells mature. RIBOSOMES are last to disappear. Certain staining techniques cause components of the ribosomes to precipitate into characteristic "reticulum" (not the same as the ENDOPLASMIC RETICULUM), hence the name reticulocytes.
A hereditary disorder characterized by reduced or absent DELTA-GLOBIN thus effecting the level of HEMOGLOBIN A2, a minor component of adult hemoglobin monitored in the diagnosis of BETA-THALASSEMIA.
Measurement of hemoglobin concentration in blood.
The production of red blood cells (ERYTHROCYTES). In humans, erythrocytes are produced by the YOLK SAC in the first trimester; by the liver in the second trimester; by the BONE MARROW in the third trimester and after birth. In normal individuals, the erythrocyte count in the peripheral blood remains relatively constant implying a balance between the rate of erythrocyte production and rate of destruction.
Surgical procedure involving either partial or entire removal of the spleen.
An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia.
Anemia characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte, i.e., the mean corpuscular hemoglobin concentration is less than normal. The individual cells contain less hemoglobin than they could have under optimal conditions. Hypochromic anemia may be caused by iron deficiency from a low iron intake, diminished iron absorption, or excessive iron loss. It can also be caused by infections or other diseases, therapeutic drugs, lead poisoning, and other conditions. (Stedman, 25th ed; from Miale, Laboratory Medicine: Hematology, 6th ed, p393)
RED BLOOD CELL sensitivity to change in OSMOTIC PRESSURE. When exposed to a hypotonic concentration of sodium in a solution, red cells take in more water, swell until the capacity of the cell membrane is exceeded, and burst.
Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.
Identification of genetic carriers for a given trait.
A commonly occurring abnormal hemoglobin in which lysine replaces a glutamic acid residue at the sixth position of the beta chains. It results in reduced plasticity of erythrocytes.
The formation and development of blood cells outside the BONE MARROW, as in the SPLEEN; LIVER; or LYMPH NODES.
I'm sorry for any confusion, but "Italy" is not a medical term or concept, it's a country located in Southern Europe. If you have any questions related to medical topics, I'd be happy to help with those!
The great peninsula of southwest Asia comprising most of the present countries of the Middle East. It has been known since the first millennium B.C. In early times it was divided into Arabia Petraea, the northwest part, the only part ever conquered, becoming a Roman province; Arabia Deserta, the northern part between Syria and Mesopotamia; and Arabia Felix, the main part of the peninsula but by some geographers restricted to modern Yemen. (From Webster's New Geographical Dictionary, 1988, p63)
A member of the beta-globin family. In humans, delta-globin is encoded in the beta-globin gene cluster located on CHROMOSOME 11. Two delta-globin chains along with two alpha-globin chains form HEMOGLOBIN A2 which makes up about 3% of the HEMOGLOBIN in adults.
The senescence of RED BLOOD CELLS. Lacking the organelles that make protein synthesis possible, the mature erythrocyte is incapable of self-repair, reproduction, and carrying out certain functions performed by other cells. This limits the average life span of an erythrocyte to 120 days.
Derivatives of BENZOIC ACID. Included under this heading are a broad variety of acid forms, salts, esters, and amides that contain the carboxybenzene structure.
The research and development of ELECTRICAL EQUIPMENT AND SUPPLIES for such medical applications as diagnosis, therapy, research, anesthesia control, cardiac control, and surgery. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
A disease characterized by compensated hemolysis with a normal hemoglobin level or a mild to moderate anemia. There may be intermittent abdominal discomfort, splenomegaly, and slight jaundice.
One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia.
A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN.
The collective name for the islands of the Pacific Ocean northeast of Australia, including NEW CALEDONIA; VANUATU; New Hebrides, Solomon Islands, Admiralty Islands, Bismarck Archipelago, FIJI, etc. Melanesia (from the Greek melas, black + nesos, island) is so called from the black color of the natives who are generally considered to be descended originally from the Negroid Papuans and the Polynesians or Malays. (From Webster's New Geographical Dictionary, 1988, p748 & Room, Brewer's Dictionary of Names, 1992, p344)
Low-molecular-weight compounds produced by microorganisms that aid in the transport and sequestration of ferric iron. (The Encyclopedia of Molecular Biology, 1994)
Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES.
Hemosiderin is an iron-containing pigment that originates from the breakdown of hemoglobin and accumulates in tissues, primarily in macrophages, as a result of various pathological conditions such as hemorrhage, inflammation, or certain storage diseases.
A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)
Formerly known as Siam, this is a Southeast Asian nation at the center of the Indochina peninsula. Bangkok is the capital city.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
Electrophoresis applied to BLOOD PROTEINS.
The transfer of erythrocytes from a donor to a recipient or reinfusion to the donor.
Actual loss of portion of a chromosome.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
Abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells. They are seen in thalassemias, enzymopathies, hemoglobinopathies, and after splenectomy.
Members of the beta-globin family. In humans, two non-allelic types of gamma-globin - A gamma and G gamma are encoded in the beta-globin gene cluster on CHROMOSOME 11. Two gamma-globin chains combine with two ZETA-GLOBIN chains to form the embryonic hemoglobin Portland. Fetal HEMOGLOBIN F is formed from two gamma-globin chains combined with two ALPHA-GLOBIN chains.
The destruction of ERYTHROCYTES by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity.
An island republic in the eastern Mediterranean Sea. Its capital is Nicosia. It was colonized by the Phoenicians and ancient Greeks and ruled successively by the Assyrian, Persian, Ptolemaic, Roman, and Byzantine Empires. It was under various countries from the 12th to the 20th century but became independent in 1960. The name comes from the Greek Kupros, probably representing the Sumerian kabar or gabar, copper, famous in historic times for its copper mines. The cypress tree is also named after the island. (From Webster's New Geographical Dictionary, 1988, p308 & Room, Brewer's Dictionary of Names, 1992, p134)
The cells in the erythroid series derived from MYELOID PROGENITOR CELLS or from the bi-potential MEGAKARYOCYTE-ERYTHROID PROGENITOR CELLS which eventually give rise to mature RED BLOOD CELLS. The erythroid progenitor cells develop in two phases: erythroid burst-forming units (BFU-E) followed by erythroid colony-forming units (CFU-E); BFU-E differentiate into CFU-E on stimulation by ERYTHROPOIETIN, and then further differentiate into ERYTHROBLASTS when stimulated by other factors.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Ability of ERYTHROCYTES to change shape as they pass through narrow spaces, such as the microvasculature.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).
Iron or iron compounds used in foods or as food. Dietary iron is important in oxygen transport and the synthesis of the iron-porphyrin proteins hemoglobin, myoglobin, cytochromes, and cytochrome oxidase. Insufficient amounts of dietary iron can lead to iron-deficiency anemia.
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.
A benign familial disorder, transmitted as an autosomal dominant trait. It is characterized by low-grade chronic hyperbilirubinemia with considerable daily fluctuations of the bilirubin level.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression. (1/992)

The analysis of a number of cases of beta-globin thalassemia and hereditary persistence of fetal hemoglobin (HPFH) due to large deletions in the beta-globin locus has led to the identification of several DNA elements that have been implicated in the switch from human fetal gamma- to adult beta-globin gene expression. We have tested this hypothesis for an element that covers the minimal distance between the thalassemia and HPFH deletions and is thought to be responsible for the difference between a deletion HPFH and deltabeta-thalassemia, located 5' of the delta-globin gene. This element has been deleted from a yeast artificial chromosome (YAC) containing the complete human beta-globin locus. Analysis of this modified YAC in transgenic mice shows that early embryonic expression is unaffected, but in the fetal liver it is subject to position effects. In addition, the efficiency of transcription of the beta-globin gene is decreased, but the developmental silencing of the gamma-globin genes is unaffected by the deletion. These results show that the deleted element is involved in the activation of the beta-globin gene perhaps through the loss of a structural function required for gene activation by long-range interactions.  (+info)

A new alkali-resistant hemoglobin alpha2J Oxford gammaF2 in a Sicilian baby girl with homozygous beta0 thalassemia. (2/992)

A 10-mo-old baby girl with homozygous beta0 thalassemia and alphaJOxford, presenting the clinical picture of homozygous beta thalassemia is described. Hemoglobin electrophoresis showed three bands: the first two with the mobilities of hemoglobin Hb A2 (1%) and Hb F (69%), respectively, the third migrating a little faster than Hb A (30%). About 30% of her alpha chains were J Oxford which, bound to her gamma chains, produced a new alkali-resistant hemoglobin, alpha2 J Oxford gamma F2, which has not been described previously. Hemoglobin synthesis in vitro showed the absence of beta chain synthesis and an alpha/non-alpha ratio of 2. The patient's father was heterozygous for both the Hb J Oxford and beta0 thalassemia genes, the mother a carrier of beta0 thalassemia; four other relatives were carriers of Hb J Oxford, and one was a carrier of beta thalassemia.  (+info)

'Common' uncommon anemias. (3/992)

Of the uncommon anemias, "common" types include the anemia of renal disease, thalassemia, myelodysplastic syndrome and the anemia of chronic disease. These conditions may be suggested by the clinical presentation, laboratory test values and peripheral blood smear, or by failure of the anemia to respond to iron supplements or nutrient replacement. The principal cause of the anemia of renal disease is a decreased production of red blood cells related to a relative deficiency of erythropoietin. When treatment is required, erythropoietin is administered, often with iron supplementation. In the anemia of chronic disease, impaired iron transport decreases red blood cell production. Treatment is predominantly directed at the underlying condition. Since iron stores are usually normal, iron administration is not beneficial. Thalassemia minor results from a congenital abnormality of hemoglobin synthesis. The disorder may masquerade as mild iron deficiency anemia, but iron therapy and transfusions are often not indicated. In the myelodysplastic syndrome, blood cell components fail to mature, and the condition may progress to acute nonlymphocytic leukemia. The rate of progression depends on the subtype of myelodysplasia, but the leukemia is usually resistant to therapy.  (+info)

Hormonal changes in thalassaemia major. (4/992)

Patients with severe thalassaemia major suffer endocrine and other abnormalities before their eventual death from iron overload due to repeated blood transfusions. The endocrine status of 31 thalassaemic patients aged 2-5 to 23 years was investigated. Exact data were available on the rate and duration of blood transfusion in all of them and in many the liver iron concentration was also known. Although the patients were euthyroid, the mean serum thyroxine level was significantly lower, and the mean thyrotrophic hormone level significantly higher, compared with the values found in normal children. Forty oral glucose tolerance tests with simultaneous insulin levels were performed in 19 children, of whom 5 developed symptomatic diabetes and one had impaired tolerance. Previous tests on all 6 patients were available and some showed raised insulin levels possibly due to insulin resistance. 2 patients had clinical hypoparathyroidism and are described. The parathyroid hormone levels determined by radioimmunoassay in 25 patients were below the mean for the age group in all and outside the reference range in 16. Nonfasting plasma calcium levels were not reduced. Puberty was delayed in some patients. Concentrations of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) measured in urine from 7 girls and 5 boys showed considerable variation. In the boys there was an overall tendency for FSH and LH excretion to be low with regard to age, but with respect to puberty rating FSH exretions were normal or low and LH normal or raised. The girls showed a tendency for LH but not FSH excretion to be raised in relation to puberty rating. The severity of the endocrine changes was related to the degree of iron loading and is discussed in relation to previous work in which the iron loading has rarely been accurately indicated nor parathyroid status assessed.  (+info)

Birth of healthy children after preimplantation diagnosis of thalassemias. (5/992)

BACKGROUND: Preimplantation genetic diagnosis (PGD) allows couples at risk of having children with thalassemia to ensure the healthy outcome of their pregnancy. METHODS: Seventeen PGD clinical cycles were initiated for Cypriot couples at risk of having children with different thalassemia mutations, including IVSI-110, IVSI-6, and IVS II-745. Unaffected embryos for transfer were selected by testing oocytes, using first and second polar body (PB) removal and nested polymerase chain reaction analysis followed by restriction digestion. RESULTS: Unaffected embryos were selected in 16 of 17 PGD cycles. Of 166 oocytes studied from these cycles, 110 were analyzed by sequential analysis of both the first and the second PB, resulting in preselection and transfer of 45 unaffected embryos. This resulted in seven pregnancies and in the birth of five healthy thalassemia-free children. The embryos predicted to have inherited the affected allele were not transferred. Analysis of these embryos confirmed the PB diagnosis. CONCLUSIONS: Sequential first and second PB testing of oocytes is reliable for PGD of thalassemia and is a feasible alternative to prenatal diagnosis in high-risk populations.  (+info)

Further evidence of a quantitative deficiency of chain-specific globin mRNA in the thalassemia syndromes. (6/992)

Formamide gel electrophoresis separates the mRNA fraction from reticulocyte polyribosomes of adult humans into two major RNA species with migratory rates identical to those of the alpha- and beta-globin mRNAs of the rabbit. That these two RNAs of human origin are the globin mRNAs is further supported by the deficiency of the presumed beta mRNA in reticulocyte polyribosomes of fetuses and premature infants, whose cells make gamma chains in preference to beta chains. The globin mRNAs of reticulocyte polyribosomes from patients with hematological disorders were estimated by scanning the stained formamide gels. In contrast to individuals with either hemolytic anemia without hemoglobinopathy or sickle cell anemia who had beta mRNA to alpha mRNA ratios of approximately one, a patient with Hb S-beta-thalassemia had a ratio of beta mRNA to alpha mRNA of 0.75 while two subjects with homozygous beta-thalassemia had severe deficiencies of beta mRNA. Conversely, a patient with alpha-thalassemia (Hb H disease) had a ratio of beta mRNA to alpha mRNA on reticulocyte polyribosomes of 6. These data provide further evidence of a quantitative deficiency of chain-specific globin mRNA in patients with the thalassemia syndromes.  (+info)

Coexistence of two functioning T-cell repertoires in healthy ex-thalassemics bearing a persistent mixed chimerism years after bone marrow transplantation. (7/992)

Bone marrow transplantation (BMT) from an HLA-identical donor is an established therapy to cure homozygous beta-thalassemia. Approximately 10% of thalassemic patients developed a persistent mixed chimerism (PMC) after BMT characterized by stable coexistence of host and donor cells in all hematopoietic compartments. Interestingly, in the erythrocytic lineage, close to normal levels of hemoglobin can be observed in the absence of complete donor engraftment. In the lymphocytic lineage, the striking feature is the coexistence of immune cells. This implies a state of tolerance or anergy, raising the issue of immunocompetence of the host. To understand the state of the T cells in PMC, repertoire analysis and functional studies were performed on cells from 3 ex-thalassemics. Repertoire analysis showed a profound skewing. This was due to an expansion of some T cells and not to a collapse of the repertoire, because phytohemagglutinin stimulation showed the presence of a complex repertoire. The immunocompetence of the chimeric immune systems was further established by showing responses to alloantigens and recall antigens in vitro. Both host and donor lymphocytes were observed in the cultures. These data suggest that the expanded T cells play a role in specific tolerance while allowing a normal immune status in these patients.  (+info)

Relative numbers of human globin genes assayed with purified alpha and beta complementary human DNA. (8/992)

Purified alpha and beta globin complementary DNAs (cDNAs) have been separated from total radioactively labeled human globin cDNA using mRNA purified from liver of a hydrops fetalis (alpha thalassemia). The beta cDNA hybridizes to the hydrops fetalis mRNA while the alpha cDNA remains single-stranded. the purified alpha and beta cDNAs were assayed for their purity by their hybridization to mRNA prepared from reticulocytes of nonthalassemia, alpha thalassemia, and beta thalassemia subjects. The results indicate that the separated cDNAs are selective in hybridization to alpha or beta globin mRNAs, respectively. The previously reported deficiency of globin mRNA in thalassemia cells has been confirmed with these purified cDNAs. The purified alpha and beta cDNAs were hybridized to cellular DNA to non-thalassemia, beta+ thalassemia, and hydrops fetalis (alpha thalassemia) DNA. The alpha cDNA hybridized to hydrops fetalis liver DNA to a much lower extent that beta cDNA, confirming the previously reported deletion of alpha globin genes in hydrops fetalis. By contrast, both the alpha and beta DNA probes hybridized to the same extent to spleen DNA from non-thalassemia and from beta+ thalassemia patients. Between two and five globin genes in non-thalassemia and beta+ thalassemia DNA hybridize to beta cDNA and one to five to alpha cDNA. These studies indicate that in beta+ thalassemia, there is no detectable deletion in beta globin genes. The genetic defect in beta+ thalassemia appears to be due to either repression of transcription of beta globin genes or abnormal processing of beta globin mRNA.  (+info)

Thalassemia is a group of inherited genetic disorders that affect the production of hemoglobin, a protein in red blood cells responsible for carrying oxygen throughout the body. The disorder results in less efficient or abnormal hemoglobin, which can lead to anemia, an insufficient supply of oxygen-rich red blood cells.

There are two main types of Thalassemia: alpha and beta. Alpha thalassemia occurs when there is a problem with the alpha globin chain production, while beta thalassemia results from issues in beta globin chain synthesis. These disorders can range from mild to severe, depending on the number of genes affected and their specific mutations.

Severe forms of Thalassemia may require regular blood transfusions, iron chelation therapy, or even a bone marrow transplant to manage symptoms and prevent complications.

Beta-thalassemia is a genetic blood disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen throughout the body. Specifically, beta-thalassemia is caused by mutations in the beta-globin gene, which leads to reduced or absent production of the beta-globin component of hemoglobin.

There are two main types of beta-thalassemia:

1. Beta-thalassemia major (also known as Cooley's anemia): This is a severe form of the disorder that typically becomes apparent in early childhood. It is characterized by a significant reduction or absence of beta-globin production, leading to anemia, enlarged spleen and liver, jaundice, and growth retardation.
2. Beta-thalassemia intermedia: This is a milder form of the disorder that may not become apparent until later in childhood or even adulthood. It is characterized by a variable reduction in beta-globin production, leading to mild to moderate anemia and other symptoms that can range from nonexistent to severe.

Treatment for beta-thalassemia depends on the severity of the disorder and may include blood transfusions, iron chelation therapy, and/or bone marrow transplantation. In some cases, genetic counseling and prenatal diagnosis may also be recommended for families with a history of the disorder.

Alpha-thalassemia is a genetic disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen throughout the body. It is caused by deletions or mutations in the genes that produce the alpha-globin chains of hemoglobin.

There are several types of alpha-thalassemia, ranging from mild to severe. The most severe form, called hydrops fetalis, occurs when all four alpha-globin genes are deleted or mutated. This can cause stillbirth or death shortly after birth due to heart failure and severe anemia.

Less severe forms of alpha-thalassemia can cause mild to moderate anemia, which may be asymptomatic or associated with symptoms such as fatigue, weakness, and jaundice. These forms of the disorder are more common in people from Mediterranean, Southeast Asian, and African backgrounds.

Treatment for alpha-thalassemia depends on the severity of the condition and may include blood transfusions, iron chelation therapy, or occasionally stem cell transplantation.

Hemoglobin E (HbE) is a structural variant of hemoglobin, which is the oxygen-carrying protein in red blood cells. This variant results from a specific mutation in the beta-globin gene, leading to the substitution of glutamic acid with lysine at position 26 of the beta-globin chain.

HbE is most commonly found in people from Southeast Asia, particularly in populations from Thailand, Cambodia, and Laos. It can also be found in other parts of the world, such as India, Bangladesh, and Pakistan. HbE is usually asymptomatic when it occurs in its heterozygous form (one normal beta-globin gene and one HbE gene). However, when it occurs in the homozygous form (two HbE genes), or in combination with other hemoglobinopathies like thalassemia, it can lead to a range of clinical manifestations, including mild to severe microcytic anemia, splenomegaly, and jaundice.

Individuals with HbE may have increased susceptibility to certain infections and may experience complications during pregnancy or surgery due to impaired oxygen-carrying capacity. Regular monitoring of hemoglobin levels, iron status, and potential complications is essential for managing individuals with Hemoglobin E effectively.

Chelation therapy is a medical treatment that involves the use of chelating agents to remove heavy metals and minerals from the body. A chelating agent is a molecule that bonds with the metal ions, forming a stable, water-soluble complex that can be excreted through urine or stool.

The most common chelating agent used in medical settings is ethylene diamine tetraacetic acid (EDTA), which is administered intravenously. EDTA binds with metals such as lead, mercury, iron, and calcium, and helps to eliminate them from the body.

Chelation therapy is primarily used to treat heavy metal poisoning, such as lead or mercury toxicity. It may also be used in some cases to treat cardiovascular disease, although its effectiveness for this use is still a matter of debate and controversy.

It's important to note that chelation therapy should only be administered under the supervision of a qualified healthcare professional, as improper use can lead to serious side effects and complications.

Globins are a group of proteins that contain a heme prosthetic group, which binds and transports oxygen in the blood. The most well-known globin is hemoglobin, which is found in red blood cells and is responsible for carrying oxygen from the lungs to the body's tissues. Other members of the globin family include myoglobin, which is found in muscle tissue and stores oxygen, and neuroglobin and cytoglobin, which are found in the brain and other organs and may have roles in protecting against oxidative stress and hypoxia (low oxygen levels). Globins share a similar structure, with a folded protein surrounding a central heme group. Mutations in globin genes can lead to various diseases, such as sickle cell anemia and thalassemia.

Abnormal hemoglobins refer to variants of the oxygen-carrying protein found in red blood cells, which differ from the normal adult hemoglobin (HbA) in terms of their structure and function. These variations can result from genetic mutations that affect the composition of the globin chains in the hemoglobin molecule. Some abnormal hemoglobins are clinically insignificant, while others can lead to various medical conditions such as hemolytic anemia, thalassemia, or sickle cell disease. Examples of abnormal hemoglobins include HbS (associated with sickle cell anemia), HbC, HbE, and HbF (fetal hemoglobin). These variants can be detected through specialized laboratory tests, such as hemoglobin electrophoresis or high-performance liquid chromatography (HPLC).

Iron overload is a condition characterized by an excessive accumulation of iron in the body's tissues and organs, particularly in the liver, heart, and pancreas. This occurs when the body absorbs more iron than it can use or eliminate, leading to iron levels that are higher than normal.

Iron overload can result from various factors, including hereditary hemochromatosis, a genetic disorder that affects how the body absorbs iron from food; frequent blood transfusions, which can cause iron buildup in people with certain chronic diseases such as sickle cell anemia or thalassemia; and excessive consumption of iron supplements or iron-rich foods.

Symptoms of iron overload may include fatigue, joint pain, abdominal discomfort, irregular heartbeat, and liver dysfunction. If left untreated, it can lead to serious complications such as cirrhosis, liver failure, diabetes, heart problems, and even certain types of cancer. Treatment typically involves regular phlebotomy (removal of blood) to reduce iron levels in the body, along with dietary modifications and monitoring by a healthcare professional.

Hemoglobinopathies are a group of genetic disorders characterized by structural or functional abnormalities of the hemoglobin molecule in red blood cells. Hemoglobin is a complex protein that plays a crucial role in carrying oxygen throughout the body. The two most common types of hemoglobinopathies are sickle cell disease and thalassemia.

In sickle cell disease, a single mutation in the beta-globin gene results in the production of an abnormal form of hemoglobin called hemoglobin S (HbS). When deoxygenated, HbS molecules tend to aggregate and form long polymers, causing the red blood cells to become sickle-shaped, rigid, and fragile. These abnormally shaped cells can block small blood vessels, leading to tissue damage, chronic pain, organ dysfunction, and other serious complications.

Thalassemias are a heterogeneous group of disorders caused by mutations in the genes that regulate the production of alpha- or beta-globin chains. These mutations result in reduced or absent synthesis of one or more globin chains, leading to an imbalance in hemoglobin composition and structure. This imbalance can cause premature destruction of red blood cells (hemolysis), resulting in anemia, jaundice, splenomegaly, and other symptoms.

Hemoglobinopathies are typically inherited in an autosomal recessive manner, meaning that affected individuals have two copies of the abnormal gene – one from each parent. Carriers of a single abnormal gene usually do not show any signs or symptoms of the disorder but can pass the abnormal gene on to their offspring.

Early diagnosis and appropriate management of hemoglobinopathies are essential for improving quality of life, reducing complications, and increasing survival rates. Treatment options may include blood transfusions, iron chelation therapy, antibiotics, pain management, and, in some cases, bone marrow transplantation or gene therapy.

Iron chelating agents are medications that bind to iron in the body, forming a stable complex that can then be excreted from the body. These agents are primarily used to treat iron overload, a condition that can occur due to frequent blood transfusions or certain genetic disorders such as hemochromatosis. By reducing the amount of iron in the body, these medications can help prevent or reduce damage to organs such as the heart and liver. Examples of iron chelating agents include deferoxamine, deferasirox, and deferiprone.

Hemoglobin A2 is a type of hemoglobin that is found in human red blood cells. Hemoglobin is the protein in red blood cells that carries oxygen throughout the body. Hemoglobin A2 is made up of two alpha-like globin chains and two delta-globin chains, and it accounts for approximately 1.5 to 3.5% of the total hemoglobin in adult humans.

Hemoglobin A2 is not normally present in significant amounts until after a child has passed through their first year of life. Its level remains relatively constant throughout adulthood, and it is often used as a diagnostic marker for certain types of anemia, such as beta-thalassemia. In people with beta-thalassemia, the production of beta-globin chains is reduced or absent, leading to an increase in the relative proportion of Hemoglobin A2 and Hemoglobin F (fetal hemoglobin) in the red blood cells.

It's important to note that Hemoglobin A2 measurement alone is not enough for a definitive diagnosis of beta-thalassemia, but it can be used as a supportive test along with other investigations such as complete blood count (CBC), hemoglobin electrophoresis and molecular genetic testing.

Alpha-globins are a type of globin protein that combine to form the alpha-globin chains of hemoglobin, the oxygen-carrying protein in red blood cells. Hemoglobin is composed of four globin chains, two alpha-globin chains and two beta-globin chains, that surround a heme group. The alpha-globin genes are located on chromosome 16 and are essential for normal hemoglobin function. Mutations in the alpha-globin genes can lead to various forms of hemoglobin disorders such as alpha-thalassemia.

Fetal hemoglobin (HbF) is a type of hemoglobin that is produced in the fetus and newborn babies. It is composed of two alpha-like globin chains and two gamma-globin chains, designated as α2γ2. HbF is the primary form of hemoglobin during fetal development, replacing the embryonic hemoglobin (HbG) around the eighth week of gestation.

The unique property of HbF is its higher affinity for oxygen compared to adult hemoglobin (HbA), which helps ensure adequate oxygen supply from the mother to the developing fetus. After birth, as the newborn starts breathing on its own and begins to receive oxygen directly, the production of HbF gradually decreases and is usually replaced by HbA within the first year of life.

In some genetic disorders like sickle cell disease and beta-thalassemia, persistence of HbF into adulthood can be beneficial as it reduces the severity of symptoms due to its higher oxygen-carrying capacity and less polymerization tendency compared to HbS (in sickle cell disease) or unpaired alpha chains (in beta-thalassemia). Treatments like hydroxyurea are used to induce HbF production in these patients as a therapeutic approach.

A blood transfusion is a medical procedure in which blood or its components are transferred from one individual (donor) to another (recipient) through a vein. The donated blood can be fresh whole blood, packed red blood cells, platelets, plasma, or cryoprecipitate, depending on the recipient's needs. Blood transfusions are performed to replace lost blood due to severe bleeding, treat anemia, support patients undergoing major surgeries, or manage various medical conditions such as hemophilia, thalassemia, and leukemia. The donated blood must be carefully cross-matched with the recipient's blood type to minimize the risk of transfusion reactions.

Deferoxamine is a medication used to treat iron overload, which can occur due to various reasons such as frequent blood transfusions or excessive iron intake. It works by binding to excess iron in the body and promoting its excretion through urine. This helps to prevent damage to organs such as the heart and liver that can be caused by high levels of iron.

Deferoxamine is an injectable medication that is typically administered intravenously or subcutaneously, depending on the specific regimen prescribed by a healthcare professional. It may also be used in combination with other medications to manage iron overload more effectively.

It's important to note that deferoxamine should only be used under the guidance of a medical professional, as improper use or dosing can lead to serious side effects or complications.

Pyridones are a class of organic compounds that contain a pyridone ring, which is a heterocyclic ring consisting of a six-membered ring with five carbon atoms and one nitrogen atom, with one oxygen atom attached to the nitrogen atom by a double bond. Pyridones can be found in various natural sources, including plants and microorganisms, and they also have important applications in the pharmaceutical industry as building blocks for drug design and synthesis. Some drugs that contain pyridone rings include antihistamines, anti-inflammatory agents, and antiviral agents.

Beta-globins are the type of globin proteins that make up the beta-chain of hemoglobin, the oxygen-carrying protein in red blood cells. Hemoglobin is composed of four polypeptide chains, two alpha-globin and two beta-globin chains, arranged in a specific structure. The beta-globin gene is located on chromosome 11, and mutations in this gene can lead to various forms of hemoglobin disorders such as sickle cell anemia and beta-thalassemia.

Sickle cell anemia is a genetic disorder that affects the hemoglobin in red blood cells. Hemoglobin is responsible for carrying oxygen throughout the body. In sickle cell anemia, the hemoglobin is abnormal and causes the red blood cells to take on a sickle shape, rather than the normal disc shape. These sickled cells are stiff and sticky, and they can block blood vessels, causing tissue damage and pain. They also die more quickly than normal red blood cells, leading to anemia.

People with sickle cell anemia often experience fatigue, chronic pain, and jaundice. They may also have a higher risk of infections and complications such as stroke, acute chest syndrome, and priapism. The disease is inherited from both parents, who must both be carriers of the sickle cell gene. It primarily affects people of African descent, but it can also affect people from other ethnic backgrounds.

There is no cure for sickle cell anemia, but treatments such as blood transfusions, medications to manage pain and prevent complications, and bone marrow transplantation can help improve quality of life for affected individuals. Regular medical care and monitoring are essential for managing the disease effectively.

Hemoglobin H (Hb H) is a type of abnormal hemoglobin that can occur in individuals with certain genetic disorders, such as hemoglobinopathies. It is formed when four beta-globin chains come together, instead of the usual two alpha and two beta chains found in normal adult hemoglobin (Hb A).

This abnormal structure can result from a mutation that causes the absence or deficiency of alpha-globin chains, leading to an excess of beta-globin chains. Hemoglobin H is often associated with conditions such as thalassemia, particularly when there is a severe deficiency of alpha-globin chain production (alpha-thalassemia).

Hemoglobin H can cause hemolytic anemia, which means that the red blood cells are destroyed prematurely. The severity of the condition depends on the degree of imbalance between alpha and beta chains and other genetic factors. Symptoms may include fatigue, jaundice, and splenomegaly (enlarged spleen).

I'm sorry for any confusion, but "Sicily" is not a medical term. It is actually a large island located in the Mediterranean Sea, south of the Italian Peninsula, and it is one of the five autonomous regions of Italy. If you have any questions about medical terminology or health-related topics, I would be happy to help!

Hemoglobin J is a variant form of hemoglobin, which is the oxygen-carrying protein in red blood cells. This variant is caused by a specific mutation in the gene for the beta-globin chain, one of the two types of chains that make up hemoglobin.

The mutation responsible for Hemoglobin J results in the substitution of a glutamic acid residue with a valine residue at position 6 of the beta-globin chain. This change can lead to the formation of abnormal hemoglobin molecules that can cause red blood cells to become fragile and susceptible to rupture, a condition known as hemolysis.

Hemoglobin J is typically detected during routine newborn screening or through diagnostic testing for hemoglobin disorders. While Hemoglobin J itself is not considered a disease-causing variant, individuals who inherit it in combination with other abnormal hemoglobin genes may be at risk for developing hemolytic anemia or other related conditions.

In the context of medicine, iron is an essential micromineral and key component of various proteins and enzymes. It plays a crucial role in oxygen transport, DNA synthesis, and energy production within the body. Iron exists in two main forms: heme and non-heme. Heme iron is derived from hemoglobin and myoglobin in animal products, while non-heme iron comes from plant sources and supplements.

The recommended daily allowance (RDA) for iron varies depending on age, sex, and life stage:

* For men aged 19-50 years, the RDA is 8 mg/day
* For women aged 19-50 years, the RDA is 18 mg/day
* During pregnancy, the RDA increases to 27 mg/day
* During lactation, the RDA for breastfeeding mothers is 9 mg/day

Iron deficiency can lead to anemia, characterized by fatigue, weakness, and shortness of breath. Excessive iron intake may result in iron overload, causing damage to organs such as the liver and heart. Balanced iron levels are essential for maintaining optimal health.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

Erythrocyte count, also known as red blood cell (RBC) count, is a laboratory test that measures the number of red blood cells in a sample of blood. Red blood cells are important because they carry oxygen from the lungs to the rest of the body. A low erythrocyte count may indicate anemia, while a high count may be a sign of certain medical conditions such as polycythemia. The normal range for erythrocyte count varies depending on a person's age, sex, and other factors.

Abnormal erythrocytes refer to red blood cells that have an abnormal shape, size, or other characteristics. This can include various types of abnormalities such as:

1. Anisocytosis: Variation in the size of erythrocytes.
2. Poikilocytosis: Variation in the shape of erythrocytes, including but not limited to teardrop-shaped cells (dacrocytes), crescent-shaped cells (sickle cells), and spherical cells (spherocytes).
3. Anemia: A decrease in the total number of erythrocytes or a reduction in hemoglobin concentration, which can result from various underlying conditions such as iron deficiency, chronic disease, or blood loss.
4. Hemoglobinopathies: Abnormalities in the structure or function of hemoglobin, the protein responsible for carrying oxygen in erythrocytes, such as sickle cell anemia and thalassemia.
5. Inclusion bodies: Abnormal structures within erythrocytes, such as Heinz bodies (denatured hemoglobin) or Howell-Jolly bodies (nuclear remnants).

These abnormalities can be detected through a complete blood count (CBC) and peripheral blood smear examination. The presence of abnormal erythrocytes may indicate an underlying medical condition, and further evaluation is often necessary to determine the cause and appropriate treatment.

Ferritin is a protein in iron-metabolizing cells that stores iron in a water-soluble form. It is found inside the cells (intracellular) and is released into the bloodstream when the cells break down or die. Measuring the level of ferritin in the blood can help determine the amount of iron stored in the body. High levels of ferritin may indicate hemochromatosis, inflammation, liver disease, or other conditions. Low levels of ferritin may indicate anemia, iron deficiency, or other conditions.

Sickle cell trait is a genetic condition where an individual inherits one abnormal gene for hemoglobin S (HbS) from one parent and one normal gene for hemoglobin A (HbA) from the other parent. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body.

People with sickle cell trait do not have sickle cell disease, but they can pass the abnormal HbS gene on to their children. In certain situations, such as high altitude, low oxygen levels, or intense physical exertion, individuals with sickle cell trait may experience symptoms similar to those of sickle cell disease, such as fatigue, pain, and shortness of breath. However, these symptoms are typically milder and less frequent than in people with sickle cell disease.

It is important for individuals who know they have sickle cell trait to inform their healthcare providers, especially if they become pregnant or plan to engage in activities that may cause low oxygen levels, such as scuba diving or high-altitude climbing.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

Erythrocyte indices are a set of calculated values that provide information about the size and hemoglobin content of red blood cells (erythrocytes). These indices are commonly used in the complete blood count (CBC) test to help diagnose various types of anemia and other conditions affecting the red blood cells.

The three main erythrocyte indices are:

1. Mean Corpuscular Volume (MCV): This is the average volume of a single red blood cell, measured in femtoliters (fL). MCV helps to differentiate between microcytic, normocytic, and macrocytic anemia. Microcytic anemia is characterized by low MCV values (100 fL).
2. Mean Corpuscular Hemoglobin (MCH): This is the average amount of hemoglobin present in a single red blood cell, measured in picograms (pg). MCH helps to assess the oxygen-carrying capacity of red blood cells. Low MCH values may indicate hypochromic anemia, where the red blood cells have reduced hemoglobin content.
3. Mean Corpuscular Hemoglobin Concentration (MCHC): This is the average concentration of hemoglobin in a single red blood cell, measured as a percentage. MCHC reflects the hemoglobin concentration relative to the size of the red blood cells. Low MCHC values may indicate hypochromic anemia, while high MCHC values could suggest spherocytosis or other conditions affecting red blood cell shape and integrity.

These erythrocyte indices are calculated based on the red blood cell count, hemoglobin concentration, and hematocrit results obtained from a CBC test. They provide valuable information for healthcare professionals to diagnose and manage various hematological conditions.

Hemoglobin (Hb or Hgb) is the main oxygen-carrying protein in the red blood cells, which are responsible for delivering oxygen throughout the body. It is a complex molecule made up of four globin proteins and four heme groups. Each heme group contains an iron atom that binds to one molecule of oxygen. Hemoglobin plays a crucial role in the transport of oxygen from the lungs to the body's tissues, and also helps to carry carbon dioxide back to the lungs for exhalation.

There are several types of hemoglobin present in the human body, including:

* Hemoglobin A (HbA): This is the most common type of hemoglobin, making up about 95-98% of total hemoglobin in adults. It consists of two alpha and two beta globin chains.
* Hemoglobin A2 (HbA2): This makes up about 1.5-3.5% of total hemoglobin in adults. It consists of two alpha and two delta globin chains.
* Hemoglobin F (HbF): This is the main type of hemoglobin present in fetal life, but it persists at low levels in adults. It consists of two alpha and two gamma globin chains.
* Hemoglobin S (HbS): This is an abnormal form of hemoglobin that can cause sickle cell disease when it occurs in the homozygous state (i.e., both copies of the gene are affected). It results from a single amino acid substitution in the beta globin chain.
* Hemoglobin C (HbC): This is another abnormal form of hemoglobin that can cause mild to moderate hemolytic anemia when it occurs in the homozygous state. It results from a different single amino acid substitution in the beta globin chain than HbS.

Abnormal forms of hemoglobin, such as HbS and HbC, can lead to various clinical disorders, including sickle cell disease, thalassemia, and other hemoglobinopathies.

Hemosiderosis is a medical condition characterized by the abnormal accumulation of hemosiderin, an iron-containing protein, in various organs and tissues of the body. Hemosiderin is derived from the breakdown of hemoglobin, which is the oxygen-carrying protein in red blood cells. When there is excessive breakdown of red blood cells or impaired clearance of hemosiderin, it can lead to its accumulation in organs such as the liver, spleen, and lungs.

Hemosiderosis can be classified into two types: primary and secondary. Primary hemosiderosis is a rare condition that is caused by genetic disorders affecting red blood cells, while secondary hemosiderosis is more common and is associated with various conditions that cause excessive breakdown of red blood cells or chronic inflammation. These conditions include hemolytic anemias, repeated blood transfusions, liver diseases, infections, and certain autoimmune disorders.

The accumulation of hemosiderin can lead to tissue damage and organ dysfunction, particularly in the lungs, where it can cause pulmonary fibrosis, and in the heart, where it can lead to heart failure. Hemosiderosis is typically diagnosed through a combination of medical history, physical examination, and laboratory tests, including blood tests and imaging studies such as chest X-rays or MRI scans. Treatment of hemosiderosis depends on the underlying cause and may include medications, blood transfusions, or supportive care to manage symptoms and prevent complications.

Hemoglobin A is the most common form of hemoglobin, which is the oxygen-carrying protein in red blood cells. Hemoglobin A is a tetramer composed of two alpha and two beta globin chains, each containing a heme group that binds to oxygen. It is typically measured in laboratory tests to assess for various medical conditions such as anemia or diabetes. In the context of diabetes, the measurement of hemoglobin A1c (a form of hemoglobin A that is glycated or bound to glucose) is used to monitor long-term blood sugar control.

Reticulocytes are immature red blood cells that still contain remnants of organelles, such as ribosomes and mitochondria, which are typically found in developing cells. These organelles are involved in the process of protein synthesis and energy production, respectively. Reticulocytes are released from the bone marrow into the bloodstream, where they continue to mature into fully developed red blood cells called erythrocytes.

Reticulocytes can be identified under a microscope by their staining characteristics, which reveal a network of fine filaments or granules known as the reticular apparatus. This apparatus is composed of residual ribosomal RNA and other proteins that have not yet been completely eliminated during the maturation process.

The percentage of reticulocytes in the blood can be used as a measure of bone marrow function and erythropoiesis, or red blood cell production. An increased reticulocyte count may indicate an appropriate response to blood loss, hemolysis, or other conditions that cause anemia, while a decreased count may suggest impaired bone marrow function or a deficiency in erythropoietin, the hormone responsible for stimulating red blood cell production.

Delta-thalassemia is a type of thalassemia, which is an inherited blood disorder that affects the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen throughout the body. In delta-thalassemia, there is a mutation or deletion in the gene that produces the delta-globin chain, which is one of the four chains that make up the adult hemoglobin molecule (HbA).

There are two types of delta-thalassemia:

1. Delta-thalassemia minor: This type of delta-thalassemia occurs when a person inherits one mutated or deleted delta-globin gene from one parent and one normal gene from the other parent. People with delta-thalassemia minor usually have mild anemia, which may not cause any symptoms.
2. Delta-thalassemia major: This type of delta-thalassemia occurs when a person inherits two mutated or deleted delta-globin genes, one from each parent. People with delta-thalassemia major have severe anemia and other complications, such as bone deformities, enlarged spleen, and growth retardation. They may require regular blood transfusions to manage their anemia.

Delta-thalassemia can also occur in combination with other types of thalassemia, such as beta-thalassemia, which can further complicate the clinical picture. Treatment for delta-thalassemia depends on the severity of the condition and may include blood transfusions, iron chelation therapy, and occasionally bone marrow transplantation.

Hemoglobinometry is a method used to measure the amount or concentration of hemoglobin (Hb) in blood. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. Hemoglobinometry is typically performed on a sample of whole blood and can be done using various methods, including spectrophotometry, colorimetry, or automated analyzers.

The results of hemoglobinometry are reported in units of grams per deciliter (g/dL) or grams per liter (g/L). Normal values for hemoglobin concentration vary depending on factors such as age, sex, and altitude, but in general, a healthy adult male should have a hemoglobin level between 13.5 and 17.5 g/dL, while a healthy adult female should have a level between 12.0 and 15.5 g/dL.

Hemoglobinometry is an important diagnostic tool in the evaluation of various medical conditions, including anemia, polycythemia, and respiratory disorders. It can help identify the cause of symptoms such as fatigue, shortness of breath, or dizziness and guide treatment decisions.

Erythropoiesis is the process of forming and developing red blood cells (erythrocytes) in the body. It occurs in the bone marrow and is regulated by the hormone erythropoietin (EPO), which is produced by the kidneys. Erythropoiesis involves the differentiation and maturation of immature red blood cell precursors called erythroblasts into mature red blood cells, which are responsible for carrying oxygen to the body's tissues. Disorders that affect erythropoiesis can lead to anemia or other blood-related conditions.

A splenectomy is a surgical procedure in which the spleen is removed from the body. The spleen is an organ located in the upper left quadrant of the abdomen, near the stomach and behind the ribs. It plays several important roles in the body, including fighting certain types of infections, removing old or damaged red blood cells from the circulation, and storing platelets and white blood cells.

There are several reasons why a splenectomy may be necessary, including:

* Trauma to the spleen that cannot be repaired
* Certain types of cancer, such as Hodgkin's lymphoma or non-Hodgkin's lymphoma
* Sickle cell disease, which can cause the spleen to enlarge and become damaged
* A ruptured spleen, which can be life-threatening if not treated promptly
* Certain blood disorders, such as idiopathic thrombocytopenic purpura (ITP) or hemolytic anemia

A splenectomy is typically performed under general anesthesia and may be done using open surgery or laparoscopically. After the spleen is removed, the incision(s) are closed with sutures or staples. Recovery time varies depending on the individual and the type of surgery performed, but most people are able to return to their normal activities within a few weeks.

It's important to note that following a splenectomy, individuals may be at increased risk for certain types of infections, so it's recommended that they receive vaccinations to help protect against these infections. They should also seek medical attention promptly if they develop fever, chills, or other signs of infection.

Hemoglobin S (HbS) is a genetic variant of hemoglobin, which is the oxygen-carrying protein in red blood cells. This abnormal form of hemogllobin results from a mutation in the beta-globin gene, leading to the substitution of valine for glutamic acid at position six of the beta-globin chain.

In individuals with sickle cell disease (a group of inherited red blood cell disorders), both copies of their beta-globin genes carry this mutation, causing the majority of their hemoglobin to be HbS. When deoxygenated, HbS molecules have a tendency to polymerize and form long, rigid rods within the red blood cells, distorting their shape into a characteristic sickle or crescent form.

These sickled red blood cells are less flexible and more prone to rupture (hemolysis), leading to chronic anemia, vaso-occlusive crises, and other disease complications. Sickle cell disease primarily affects people of African, Mediterranean, Middle Eastern, and Indian ancestry, but it can also be found in other populations worldwide.

Hypochromic anemia is a type of anemia characterized by the presence of red blood cells that have lower than normal levels of hemoglobin and appear paler in color than normal. Hemoglobin is a protein in red blood cells that carries oxygen from the lungs to the rest of the body. In hypochromic anemia, there may be a decrease in the production or increased destruction of red blood cells, leading to a reduced number of red blood cells and insufficient oxygen supply to the tissues.

Hypochromic anemia can result from various underlying medical conditions, including iron deficiency, thalassemia, chronic inflammation, lead poisoning, and certain infections or chronic diseases. Treatment for hypochromic anemia depends on the underlying cause and may include iron supplements, dietary changes, medications, or blood transfusions.

Osmotic fragility is a term used in medicine, specifically in the field of hematology. It refers to the susceptibility or tendency of red blood cells (RBCs) to undergo lysis (rupture or breaking open) when exposed to hypotonic solutions (solutions with lower osmotic pressure than the RBCs). This test is often used to diagnose and monitor hereditary spherocytosis, a genetic disorder that affects the structure and stability of red blood cells.

In this condition, the RBC membrane proteins are defective, leading to abnormally shaped and fragile cells. When these abnormal RBCs come into contact with hypotonic solutions, they rupture more easily than normal RBCs due to their decreased osmotic resistance. The degree of osmotic fragility can be measured through a laboratory test called the "osmotic fragility test," which evaluates the stability and structural integrity of RBCs in response to varying osmotic pressures.

In summary, osmotic fragility is a medical term that describes the increased susceptibility of red blood cells to lysis when exposed to hypotonic solutions, often associated with hereditary spherocytosis or other conditions affecting RBC membrane stability.

Erythrocytes, also known as red blood cells (RBCs), are the most common type of blood cell in circulating blood in mammals. They are responsible for transporting oxygen from the lungs to the body's tissues and carbon dioxide from the tissues to the lungs.

Erythrocytes are formed in the bone marrow and have a biconcave shape, which allows them to fold and bend easily as they pass through narrow blood vessels. They do not have a nucleus or mitochondria, which makes them more flexible but also limits their ability to reproduce or repair themselves.

In humans, erythrocytes are typically disc-shaped and measure about 7 micrometers in diameter. They contain the protein hemoglobin, which binds to oxygen and gives blood its red color. The lifespan of an erythrocyte is approximately 120 days, after which it is broken down in the liver and spleen.

Abnormalities in erythrocyte count or function can lead to various medical conditions, such as anemia, polycythemia, and sickle cell disease.

Heterozygote detection is a method used in genetics to identify individuals who carry one normal and one mutated copy of a gene. These individuals are known as heterozygotes and they do not typically show symptoms of the genetic disorder associated with the mutation, but they can pass the mutated gene on to their offspring, who may then be affected.

Heterozygote detection is often used in genetic counseling and screening programs for recessive disorders such as cystic fibrosis or sickle cell anemia. By identifying heterozygotes, individuals can be informed of their carrier status and the potential risks to their offspring. This information can help them make informed decisions about family planning and reproductive options.

Various methods can be used for heterozygote detection, including polymerase chain reaction (PCR) based tests, DNA sequencing, and genetic linkage analysis. The choice of method depends on the specific gene or mutation being tested, as well as the availability and cost of the testing technology.

Hemoglobin C is a type of hemoglobin variant, which is the oxygen-carrying protein in red blood cells. Hemoglobin C is caused by a specific genetic mutation that results in the substitution of lysine for glutamic acid at position 6 on the beta globin chain of the hemoglobin molecule.

This variant is often associated with a benign condition known as hemoglobin C trait, where an individual inherits one copy of the mutated gene from one parent and one normal gene from the other parent. People with this trait usually have no symptoms or only mild anemia, if any. However, if an individual inherits two copies of the Hemoglobin C gene (one from each parent), they will have a more severe form of hemoglobin disorder called Hemoglobin CC disease, which can cause mild to moderate hemolytic anemia and other complications.

It's important to note that Hemoglobin C is most commonly found in people of West African descent, but it can also occur in other populations with African ancestry.

Extramedullary hematopoiesis (EMH) is defined as the production of blood cells outside of the bone marrow in adults. In normal physiological conditions, hematopoiesis occurs within the bone marrow cavities of flat bones such as the pelvis, ribs, skull, and vertebrae. However, certain disease states or conditions can cause EMH to occur in various organs such as the liver, spleen, lymph nodes, and peripheral blood.

EMH can be seen in several pathological conditions, including hematologic disorders such as myeloproliferative neoplasms (e.g., polycythemia vera, essential thrombocytopenia), myelodysplastic syndromes, and leukemias. It can also occur in response to bone marrow failure or infiltration by malignant cells, as well as in some non-hematologic disorders such as fibrocystic disease of the breast and congenital hemolytic anemias.

EMH may lead to organ enlargement, dysfunction, and clinical symptoms depending on the site and extent of involvement. Treatment of EMH is generally directed at managing the underlying condition causing it.

I'm sorry for any confusion, but "Italy" is not a medical term or concept. It is a country located in Southern Europe. If you have any questions related to medical terminology or health-related topics, I would be happy to try and help answer those for you.

'Arabia' is a geographical term and not a medical one. It most commonly refers to the Arabian Peninsula, which is located in the southwestern corner of Asia. The region is made up of several countries including Saudi Arabia, Yemen, Oman, Qatar, Kuwait, Bahrain, and the United Arab Emirates, among others.

Arabia has a diverse climate, ranging from hot and arid deserts to coastal areas with more moderate temperatures. The region is home to a variety of cultures, languages, and religions, although Islam is the dominant religion in most parts of Arabia.

In medical contexts, 'Arabia' may be used to describe medical conditions or practices that are specific to or prevalent in the region. For example, there have been studies on the prevalence of certain genetic disorders in populations from the Arabian Peninsula. However, it is important to note that medical definitions and classifications should not rely solely on geographical location, but rather on a combination of clinical, genetic, and epidemiological factors.

Delta-globins are a type of hemoglobin protein that contains four polypeptide chains, specifically two alpha-like chains (alpha or gamma) and two delta chains. Hemoglobin is the primary oxygen-carrying protein in red blood cells, and its structure and function can vary depending on the combination of different chains.

Delta-globins are part of the adult hemoglobin molecule, known as hemoglobin A (HbA), which consists of two alpha chains and two delta chains (α2δ2). Hemoglobin A is the most abundant form of hemoglobin in adults, accounting for about 95-98% of total hemoglobin.

Delta-globins are encoded by the HBD gene located on chromosome 11. Mutations in this gene can lead to various forms of hemoglobinopathies, including sickle cell disease and delta-thalassemia. These genetic disorders can affect the structure, function, or production of hemoglobin, leading to anemia, fatigue, and other symptoms.

Erythrocyte aging, also known as red cell aging, is the natural process of changes and senescence that occur in red blood cells (erythrocytes) over time. In humans, mature erythrocytes are devoid of nuclei and organelles, and have a lifespan of approximately 120 days.

During aging, several biochemical and structural modifications take place in the erythrocyte, including:

1. Loss of membrane phospholipids and proteins, leading to increased rigidity and decreased deformability.
2. Oxidative damage to hemoglobin, resulting in the formation of methemoglobin and heinz bodies.
3. Accumulation of denatured proteins and aggregates, which can impair cellular functions.
4. Changes in the cytoskeleton, affecting the shape and stability of the erythrocyte.
5. Increased expression of surface markers, such as Band 3 and CD47, that signal the spleen to remove aged erythrocytes from circulation.

The spleen plays a crucial role in removing senescent erythrocytes by recognizing and phagocytosing those with altered membrane composition or increased expression of surface markers. This process helps maintain the overall health and functionality of the circulatory system.

Benzoates are the salts and esters of benzoic acid. They are widely used as preservatives in foods, cosmetics, and pharmaceuticals to prevent the growth of microorganisms. The chemical formula for benzoic acid is C6H5COOH, and when it is combined with a base (like sodium or potassium), it forms a benzoate salt (e.g., sodium benzoate or potassium benzoate). When benzoic acid reacts with an alcohol, it forms a benzoate ester (e.g., methyl benzoate or ethyl benzoate).

Benzoates are generally considered safe for use in food and cosmetics in small quantities. However, some people may have allergies or sensitivities to benzoates, which can cause reactions such as hives, itching, or asthma symptoms. In addition, there is ongoing research into the potential health effects of consuming high levels of benzoates over time, particularly in relation to gut health and the development of certain diseases.

In a medical context, benzoates may also be used as a treatment for certain conditions. For example, sodium benzoate is sometimes given to people with elevated levels of ammonia in their blood (hyperammonemia) to help reduce those levels and prevent brain damage. This is because benzoates can bind with excess ammonia in the body and convert it into a form that can be excreted in urine.

"Medical electronics" refers to the field of electronics that is specifically designed for medical applications. This can include a wide range of devices and systems, such as:

1. Medical imaging equipment, such as X-ray machines, CT scanners, MRI machines, and ultrasound machines.
2. Patient monitoring equipment, such as heart rate monitors, blood pressure monitors, and oxygen saturation monitors.
3. Therapeutic devices, such as pacemakers, defibrillators, and deep brain stimulators.
4. Laboratory equipment, such as DNA sequencers, mass spectrometers, and microarray scanners.
5. Wearable health technology, such as fitness trackers, smartwatches, and continuous glucose monitors.
6. Telemedicine systems that enable remote consultations and patient monitoring.

Medical electronics must meet strict regulatory requirements to ensure safety, effectiveness, and reliability. These devices often require specialized electronic components, such as sensors, signal processing circuits, and power management circuits, that are designed to operate in the challenging environments found in medical settings. Medical electronics engineers must have a deep understanding of both electronics and medical applications to design and develop these complex systems.

Hemoglobin C disease is a genetic disorder that affects the structure and function of hemoglobin, a protein in red blood cells responsible for carrying oxygen throughout the body. The disease is caused by a mutation in the gene that produces the beta-globin chain of hemoglobin, resulting in the production of an abnormal form of hemoglobin called Hemoglobin C (HbC).

People with Hemoglobin C disease inherit one copy of the HbC gene from each parent. This means they have two copies of the mutated gene and produce mostly Hemoglobin C, instead of the normal Hemoglobin A. The presence of Hemoglobin C can cause the red blood cells to become rigid and fragile, leading to a condition called hemolytic anemia.

Symptoms of Hemoglobin C disease may include fatigue, weakness, shortness of breath, pale skin, jaundice, and dark urine. The severity of the symptoms can vary widely from person to person, with some individuals experiencing mild symptoms and others having more severe complications.

Hemoglobin C disease is a chronic condition that requires ongoing medical management, including regular monitoring of hemoglobin levels, iron status, and other blood parameters. Treatment may include blood transfusions, folic acid supplementation, and medications to manage symptoms such as anemia and pain.

It's important to note that Hemoglobin C disease is not the same as sickle cell disease, which is another genetic disorder that affects hemoglobin structure and function. While both conditions can cause hemolytic anemia, they are caused by different mutations in the beta-globin gene and have distinct clinical features and management approaches.

Hemoglobin SC disease, also known as sickle cell-C disease or SC disorder, is a genetic blood disorder that is a variant of sickle cell anemia. It is caused by the presence of both hemoglobin S (HbS) and hemoglobin C (HbC) in the red blood cells.

Hemoglobin is the protein in red blood cells that carries oxygen throughout the body. In Hemoglobin SC disease, the abnormal HbS and HbC proteins can cause the red blood cells to become rigid, sticky, and C-shaped (sickled), which can lead to blockages in small blood vessels.

Symptoms of Hemoglibin SC disease may include anemia, fatigue, jaundice, episodes of pain (known as sickle cell crises), and an increased risk of infection. The severity of the symptoms can vary widely from person to person. Treatment typically focuses on managing symptoms and preventing complications, and may include medications, blood transfusions, and sometimes a bone marrow transplant.

Anemia is a medical condition characterized by a lower than normal number of red blood cells or lower than normal levels of hemoglobin in the blood. Hemoglobin is an important protein in red blood cells that carries oxygen from the lungs to the rest of the body. Anemia can cause fatigue, weakness, shortness of breath, and a pale complexion because the body's tissues are not getting enough oxygen.

Anemia can be caused by various factors, including nutritional deficiencies (such as iron, vitamin B12, or folate deficiency), blood loss, chronic diseases (such as kidney disease or rheumatoid arthritis), inherited genetic disorders (such as sickle cell anemia or thalassemia), and certain medications.

There are different types of anemia, classified based on the underlying cause, size and shape of red blood cells, and the level of hemoglobin in the blood. Treatment for anemia depends on the underlying cause and may include dietary changes, supplements, medication, or blood transfusions.

I'm sorry for any confusion, but "Melanesia" is not a medical term. It is a geographical region in the southwestern Pacific Ocean, consisting of an island group including New Guinea, the Bismarck Archipelago, the Solomon Islands, Vanuatu, New Caledonia, and the Fiji islands. The term "Melanesia" comes from the Greek words "melas," meaning black, and "nesos," meaning island, referring to the dark skin of the inhabitants. It's primarily used in anthropological, geographical, and cultural contexts.

Siderophores are low-molecular-weight organic compounds that are secreted by microorganisms, such as bacteria and fungi, to chelate and solubilize iron from their environment. They are able to bind ferric iron (Fe3+) with very high affinity and form a siderophore-iron complex, which can then be taken up by the microorganism through specific transport systems. This allows them to acquire iron even in environments where it is present at very low concentrations or in forms that are not readily available for uptake. Siderophores play an important role in the survival and virulence of many pathogenic microorganisms, as they help them to obtain the iron they need to grow and multiply.

The endocrine system is a complex network of glands and organs that produce, store, and secrete hormones. It plays a crucial role in regulating various functions in the body, including metabolism, growth and development, tissue function, sexual function, reproduction, sleep, and mood.

Endocrine system diseases or disorders occur when there is a problem with the production or regulation of hormones. This can result from:

1. Overproduction or underproduction of hormones by the endocrine glands.
2. Impaired response of target cells to hormones.
3. Disruption in the feedback mechanisms that regulate hormone production.

Examples of endocrine system diseases include:

1. Diabetes Mellitus - a group of metabolic disorders characterized by high blood sugar levels due to insulin deficiency or resistance.
2. Hypothyroidism - underactive thyroid gland leading to slow metabolism, weight gain, fatigue, and depression.
3. Hyperthyroidism - overactive thyroid gland causing rapid heartbeat, anxiety, weight loss, and heat intolerance.
4. Cushing's Syndrome - excess cortisol production resulting in obesity, high blood pressure, and weak muscles.
5. Addison's Disease - insufficient adrenal hormone production leading to weakness, fatigue, and low blood pressure.
6. Acromegaly - overproduction of growth hormone after puberty causing enlargement of bones, organs, and soft tissues.
7. Gigantism - similar to acromegaly but occurs before puberty resulting in excessive height and body size.
8. Hypopituitarism - underactive pituitary gland leading to deficiencies in various hormones.
9. Hyperparathyroidism - overactivity of the parathyroid glands causing calcium imbalances and kidney stones.
10. Precocious Puberty - early onset of puberty due to premature activation of the pituitary gland.

Treatment for endocrine system diseases varies depending on the specific disorder and may involve medication, surgery, lifestyle changes, or a combination of these approaches.

Hemosiderin is a golden-brown pigment that consists of iron-containing protein complexes called ferritin and ferrikinase. It is insoluble in water and forms as a result of the breakdown of hemoglobin in the reticuloendothelial system, primarily in macrophages. Hemosiderin deposits can be found in various tissues and organs, such as the spleen, liver, and brain, under conditions of increased red blood cell destruction or impaired iron metabolism. These deposits are often associated with diseases such as hemochromatosis, thalassemia, and chronic inflammation.

Hemochromatosis is a medical condition characterized by excessive absorption and accumulation of iron in the body, resulting in damage to various organs. It's often referred to as "iron overload" disorder. There are two main types: primary (hereditary) and secondary (acquired). Primary hemochromatosis is caused by genetic mutations that lead to increased intestinal iron absorption, while secondary hemochromatosis can be the result of various conditions such as multiple blood transfusions, chronic liver disease, or certain types of anemia.

In both cases, the excess iron gets stored in body tissues, particularly in the liver, heart, and pancreas, which can cause organ damage and lead to complications like cirrhosis, liver failure, diabetes, heart problems, and skin discoloration. Early diagnosis and treatment through regular phlebotomy (blood removal) or chelation therapy can help manage the condition and prevent severe complications.

I'm sorry for any confusion, but "Thailand" is not a medical term. It is a country located in Southeast Asia. If you have any questions about medical terms or concepts, I would be happy to help answer those for you!

Prenatal diagnosis is the medical testing of fetuses, embryos, or pregnant women to detect the presence or absence of certain genetic disorders or birth defects. These tests can be performed through various methods such as chorionic villus sampling (CVS), amniocentesis, or ultrasound. The goal of prenatal diagnosis is to provide early information about the health of the fetus so that parents and healthcare providers can make informed decisions about pregnancy management and newborn care. It allows for early intervention, treatment, or planning for the child's needs after birth.

Blood protein electrophoresis (BPE) is a laboratory test that separates and measures the different proteins in the blood, such as albumin, alpha-1 globulins, alpha-2 globulins, beta globulins, and gamma globulins. This test is often used to help diagnose or monitor conditions related to abnormal protein levels, such as multiple myeloma, macroglobulinemia, and other plasma cell disorders.

In this test, a sample of the patient's blood is placed on a special gel and an electric current is applied. The proteins in the blood migrate through the gel based on their electrical charge and size, creating bands that can be visualized and measured. By comparing the band patterns to reference ranges, doctors can identify any abnormal protein levels or ratios, which may indicate underlying medical conditions.

It's important to note that while BPE is a useful diagnostic tool, it should be interpreted in conjunction with other clinical findings and laboratory tests for accurate diagnosis and management of the patient's condition.

An erythrocyte transfusion, also known as a red blood cell (RBC) transfusion, is the process of transferring compatible red blood cells from a donor to a recipient. This procedure is typically performed to increase the recipient's oxygen-carrying capacity, usually in situations where there is significant blood loss, anemia, or impaired red blood cell production.

During the transfusion, the donor's red blood cells are collected, typed, and tested for compatibility with the recipient's blood to minimize the risk of a transfusion reaction. Once compatible units are identified, they are infused into the recipient's circulation through a sterile intravenous (IV) line. The recipient's body will eventually eliminate the donated red blood cells within 100-120 days as part of its normal turnover process.

Erythrocyte transfusions can be lifesaving in various clinical scenarios, such as trauma, surgery, severe anemia due to chronic diseases, and hematologic disorders. However, they should only be used when necessary, as there are potential risks associated with the procedure, including allergic reactions, transmission of infectious diseases, transfusion-related acute lung injury (TRALI), and iron overload in cases of multiple transfusions.

A chromosome deletion is a type of genetic abnormality that occurs when a portion of a chromosome is missing or deleted. Chromosomes are thread-like structures located in the nucleus of cells that contain our genetic material, which is organized into genes.

Chromosome deletions can occur spontaneously during the formation of reproductive cells (eggs or sperm) or can be inherited from a parent. They can affect any chromosome and can vary in size, from a small segment to a large portion of the chromosome.

The severity of the symptoms associated with a chromosome deletion depends on the size and location of the deleted segment. In some cases, the deletion may be so small that it does not cause any noticeable symptoms. However, larger deletions can lead to developmental delays, intellectual disabilities, physical abnormalities, and various medical conditions.

Chromosome deletions are typically detected through a genetic test called karyotyping, which involves analyzing the number and structure of an individual's chromosomes. Other more precise tests, such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA), may also be used to confirm the diagnosis and identify the specific location and size of the deletion.

A gene is a specific sequence of nucleotides in DNA that carries genetic information. Genes are the fundamental units of heredity and are responsible for the development and function of all living organisms. They code for proteins or RNA molecules, which carry out various functions within cells and are essential for the structure, function, and regulation of the body's tissues and organs.

Each gene has a specific location on a chromosome, and each person inherits two copies of every gene, one from each parent. Variations in the sequence of nucleotides in a gene can lead to differences in traits between individuals, including physical characteristics, susceptibility to disease, and responses to environmental factors.

Medical genetics is the study of genes and their role in health and disease. It involves understanding how genes contribute to the development and progression of various medical conditions, as well as identifying genetic risk factors and developing strategies for prevention, diagnosis, and treatment.

Heinz bodies are small, irregularly shaped inclusions found in the red blood cells (RBCs). They are aggregates of denatured hemoglobin and are typically seen in RBCs that have been exposed to oxidative stress. This can occur due to various factors such as exposure to certain chemicals, drugs, or diseases.

The presence of Heinz bodies can lead to the premature destruction of RBCs, a condition known as hemolysis. This can result in anemia and related symptoms such as fatigue, weakness, and shortness of breath. It's important to note that while Heinz bodies are often associated with certain diseases, they can also be present in otherwise healthy individuals who have been exposed to oxidative stress.

It's worth mentioning that the term "Heinz bodies" comes from the name of the scientist Robert Heinz, who first described them in 1890.

Gamma-globulins are a type of globulin, which are proteins found in the blood plasma. More specifically, gamma-globulins are a class of immunoglobulins, also known as antibodies, that play a crucial role in the immune system's response to foreign substances and infectious agents.

Immunoglobulins are divided into several classes based on their structure and function. Gamma-globulins include IgG, IgA, and IgD isotypes of immunoglobulins. Among these, IgG is the most abundant type found in the blood and other body fluids, responsible for providing protection against bacterial and viral infections.

Gamma-globulins are produced by B cells, a type of white blood cell involved in the immune response. They can be measured in the blood as part of a complete blood count (CBC) or specific protein electrophoresis tests to assess immune system function or diagnose various medical conditions such as infections, inflammation, and autoimmune disorders.

Hemolysis is the destruction or breakdown of red blood cells, resulting in the release of hemoglobin into the surrounding fluid (plasma). This process can occur due to various reasons such as chemical agents, infections, autoimmune disorders, mechanical trauma, or genetic abnormalities. Hemolysis may lead to anemia and jaundice, among other complications. It is essential to monitor hemolysis levels in patients undergoing medical treatments that might cause this condition.

I believe there might be a misunderstanding in your question. "Cyprus" is not a medical term or condition, but rather the name of a country located in the eastern Mediterranean Sea. It is an island nation that is known for its rich history, culture, and natural beauty. If you have any questions about Cyprus' geography, history, or other non-medical topics, I would be happy to try to help answer them!

Erythroid precursor cells, also known as erythroblasts or normoblasts, are early stage cells in the process of producing mature red blood cells (erythrocytes) in the bone marrow. These cells are derived from hematopoietic stem cells and undergo a series of maturation stages, including proerythroblast, basophilic erythroblast, polychromatophilic erythroblast, and orthochromatic erythroblast, before becoming reticulocytes and then mature red blood cells. During this maturation process, the cells lose their nuclei and become enucleated, taking on the biconcave shape and flexible membrane that allows them to move through small blood vessels and deliver oxygen to tissues throughout the body.

Genotype, in genetics, refers to the complete heritable genetic makeup of an individual organism, including all of its genes. It is the set of instructions contained in an organism's DNA for the development and function of that organism. The genotype is the basis for an individual's inherited traits, and it can be contrasted with an individual's phenotype, which refers to the observable physical or biochemical characteristics of an organism that result from the expression of its genes in combination with environmental influences.

It is important to note that an individual's genotype is not necessarily identical to their genetic sequence. Some genes have multiple forms called alleles, and an individual may inherit different alleles for a given gene from each parent. The combination of alleles that an individual inherits for a particular gene is known as their genotype for that gene.

Understanding an individual's genotype can provide important information about their susceptibility to certain diseases, their response to drugs and other treatments, and their risk of passing on inherited genetic disorders to their offspring.

Erythrocyte deformability refers to the ability of red blood cells (erythrocytes) to change shape and bend without rupturing, which is crucial for their efficient movement through narrow blood vessels. This deformability is influenced by several factors including the cell membrane structure, hemoglobin concentration, and intracellular viscosity. A decrease in erythrocyte deformability can negatively impact blood flow and oxygen delivery to tissues, potentially contributing to various pathological conditions such as sickle cell disease, diabetes, and cardiovascular diseases.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Hemolytic anemia is a type of anemia that occurs when red blood cells are destroyed (hemolysis) faster than they can be produced. Red blood cells are essential for carrying oxygen throughout the body. When they are destroyed, hemoglobin and other cellular components are released into the bloodstream, which can lead to complications such as kidney damage and gallstones.

Hemolytic anemia can be inherited or acquired. Inherited forms of the condition may result from genetic defects that affect the structure or function of red blood cells. Acquired forms of hemolytic anemia can be caused by various factors, including infections, medications, autoimmune disorders, and certain medical conditions such as cancer or blood disorders.

Symptoms of hemolytic anemia may include fatigue, weakness, shortness of breath, pale skin, jaundice (yellowing of the skin and eyes), dark urine, and a rapid heartbeat. Treatment for hemolytic anemia depends on the underlying cause and may include medications, blood transfusions, or surgery.

Dietary iron is a vital nutrient that plays a crucial role in the production of hemoglobin, a protein in red blood cells responsible for carrying oxygen throughout the body. It is also essential for various other bodily functions, including energy production and immune function.

There are two forms of dietary iron: heme and non-heme. Heme iron is found in animal products such as meat, poultry, and fish, while non-heme iron is found in plant-based foods such as beans, lentils, tofu, spinach, and fortified cereals.

The recommended daily intake of dietary iron varies depending on age, sex, and other factors. For example, adult men typically require 8 milligrams (mg) per day, while adult women need 18 mg per day. Pregnant women may require up to 27 mg per day, while breastfeeding women need around 9-10 mg per day.

It is important to note that the absorption of non-heme iron from plant-based foods can be enhanced by consuming them with vitamin C-rich foods or drinks, such as citrus fruits, strawberries, and bell peppers. On the other hand, certain substances such as tannins (found in tea and coffee) and phytates (found in whole grains and legumes) can inhibit the absorption of non-heme iron.

The liver is a large, solid organ located in the upper right portion of the abdomen, beneath the diaphragm and above the stomach. It plays a vital role in several bodily functions, including:

1. Metabolism: The liver helps to metabolize carbohydrates, fats, and proteins from the food we eat into energy and nutrients that our bodies can use.
2. Detoxification: The liver detoxifies harmful substances in the body by breaking them down into less toxic forms or excreting them through bile.
3. Synthesis: The liver synthesizes important proteins, such as albumin and clotting factors, that are necessary for proper bodily function.
4. Storage: The liver stores glucose, vitamins, and minerals that can be released when the body needs them.
5. Bile production: The liver produces bile, a digestive juice that helps to break down fats in the small intestine.
6. Immune function: The liver plays a role in the immune system by filtering out bacteria and other harmful substances from the blood.

Overall, the liver is an essential organ that plays a critical role in maintaining overall health and well-being.

Gilbert's disease, also known as Gilbert's syndrome, is a common and mild condition characterized by **intermittent** elevations in bilirubin levels in the bloodstream without any evidence of liver damage or disease. Bilirubin is a yellowish pigment that forms when hemoglobin breaks down. Normally, it gets processed in the liver and excreted through bile.

In Gilbert's disease, there is an impaired ability to conjugate bilirubin due to a deficiency or dysfunction of the enzyme UDP-glucuronosyltransferase 1A1 (UGT1A1), which is responsible for the glucuronidation process. This results in mild unconjugated hyperbilirubinemia, where bilirubin levels may rise and cause mild jaundice, particularly during times of fasting, illness, stress, or dehydration.

Gilbert's disease is typically an incidental finding, as it usually does not cause any significant symptoms or complications. It is often discovered during routine blood tests when bilirubin levels are found to be slightly elevated. The condition is usually harmless and does not require specific treatment, but avoiding triggers like fasting or dehydration may help minimize the occurrence of jaundice.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

Thalassemias are genetic disorders. There are two main types, alpha thalassemia and beta thalassemia. The severity of alpha and ... Thalassemias are inherited blood disorders that result in abnormal hemoglobin. Symptoms depend on the type of thalassemia and ... The word thalassemia was first used in 1932.: 877 Gene therapy is being studied for thalassemia. The procedure involves ... Thalassemia at Curlie Learning About Thalassemia published by the National Human Genome Research Institute. (All articles with ...
Beta thalassemiasthalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or ... Beta thalassemia trait (also known as beta thalassemia minor) involves heterozygous inheritance of a beta-thalassemia mutation ... Three main forms have been described: thalassemia minor, thalassemia intermedia, and thalassemia major which vary from ... usually as a result of beta thalassemia) Delta-thalassemia Hemoglobinopathy "Beta thalassemia". Genetics Home Reference. ...
... (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 and HBA2. Thalassemias are ... of the population carry alpha-thalassaemia genes. Beta-thalassemia Delta-thalassemia Hemoglobinopathy Origa, Raffaella; Moi, ... Alpha thalassemia can also be acquired under rare circumstances. The mechanism sees that α thalassemias results in decreased ... Diagnosis of alpha-thalassemia is primarily by laboratory evaluation and molecular diagnosis. Alpha-thalassemia can be mistaken ...
... can mask the diagnosis of beta thalassemia trait. In beta thalassemia, an increase in hemoglobin A2 ... Alpha thalassemia Beta-thalassemia Hemoglobinopathy "Delta-beta-thalassemia". Orphanet. Orphanet. Retrieved 16 September 2016 ... Delta-beta thalassemia is a rare form of thalassemia in which there is a reduced production of hemoglobin subunit delta and ... Delta-beta thalassemia is considered rare. Delta-beta-thalassemia is caused by deletions of the entire delta and beta genes ...
Severe thalassemia : Patients with severe thalassemia require medical treatment. A blood transfusion regimen was the first ... Patients with thalassemia gradually accumulate high levels of iron (Fe) in their bodies. This build-up of iron may be due to ... Patients with β-thalassemia trait should be warned that their condition can be misdiagnosed for the common Iron deficiency ... Thalassemia results in nontransferrin-bound iron being available in blood as all the transferrin becomes fully saturated. This ...
... is caused by inheritance of a sickle cell allele from one parent and a beta thalassemia allele ... Sickle cell-beta thalassemia is an inherited blood disorder. The disease may range in severity from being relatively benign and ... "Hemoglobin S- β -Thalassemia Disease - Hematology and Oncology". Retrieved 2015-06-18. "Newborn Screening Program - Sickle Cell ... Patients with sickle cell-beta thalassemia may present with painful crises similar to patients with sickle cell disease[ ...
"Thalassemia". The Lecturio Medical Concept Library. Retrieved 27 July 2021. Kalakonda A, Jenkins BA, John S (2022). "Physiology ... These diseases may cause jaundice due to increased erythrocyte hemolysis: Sickle-cell anemia Spherocytosis Thalassemia Pyruvate ...
Beta thalassemia is an inherited genetic mutation in one (Beta thalassemia minor) or both (Beta thalassemia major) of the Beta ... Beta thalassemia major occurs when a person inherits two abnormal alleles. This can be either two β+ alleles, two β0 alleles, ... Beta thalassemia minor occurs when an individual inherits one normal Beta allele and one abnormal Beta allele (either β0, or β+ ... Beta thalassemia major is a severe medical condition. A severe anemia is seen starting at 6 months of age. Without medical ...
Giardina PJ, Rivella S (2012). "Thalassemia Syndromes". In Hoffman R, Benz Jr EJ, Silberstein LE, Heslop H, Weitz J, Anastasi J ... Chronic use of deferoxamine may increase the risk of hearing loss in patients with thalassemia major. Chronic use of ... Taher AT, Musallam KM, Cappellini MD (February 2021). "β-Thalassemias". The New England Journal of Medicine. 384 (8): 727-743. ... Acquired hemochromatosis is common in patients with certain types of chronic anemia (e.g. thalassemia and myelodysplastic ...
In β thalassemia major the beta hemoglobin chain is completely absent, rendering an increase in fetal hemoglobin (HbF). Alam, ... The underlying cause can be attributed to various anemias, most often; beta thalassemia major, a form of microcytic anemia. ... Galanello, Renzo; Origa, Raffaella (2010-05-21). "Beta-thalassemia". Orphanet Journal of Rare Diseases. 5: 11. doi:10.1186/1750 ...
"alpha thalassemia". Genetics Home Reference. NIH U.S. National Library of Medicine. 14 November 2017. Whetstine JR (2010). " ... In a class of alpha-thalassemia, a type of blood disorder that has reduced level of hemoglobin leading to insufficient oxygen ...
"Beta thalassemia". Genetics Home Reference. U.S. National Library of Medicine, NIH. March 13, 2011. Retrieved 21 March 2011. ... "Hemoglobinopathies and Thalassemias". Archived from the original on 2007-12-15. Retrieved 2011-03-03. "Sickle Cell Trait and ... Rivella, S. (May 2009). "Ineffective erythropoiesis and thalassemias". Curr. Opin. Hematol. 16 (3): 187-94. doi:10.1097/MOH. ... "Alpha thalassemia". Genetics Home Reference. U.S. National Library of Medicine. February 27, 2011. Retrieved 3 March 2011. " ...
Alpha-thalassemia. Normal adult hemoglobin is composed of two alpha and two beta chains. Alpha thalassemia patients have ...
Galanello R, Origa R (May 2010). "Beta-thalassemia". Orphanet Journal of Rare Diseases. 5: 11. doi:10.1186/1750-1172-5-11. PMC ... Robinson S, Vanier T, Desforges JF, Schmid R (September 1962). "Jaundice in thalassemia minor: a consequence of "ineffective ... Other less commonly observed causes of hemolysis include: Hemolysis secondary to drug toxicity Thalassemia minor Congenital ... thalassemia minor, and congenital dyserythropoietic anemias. Pathophysiology of hemolytic jaundice directly involves the ...
Thalassemia Reports. 3 (1s): 108. doi:10.4081/thal.2013.s1.e43. Clinical trial number NCT01639690 for "β-Thalassemia Major With ... Beta thalassemia major is an inherited blood disease in which beta haemoglobin is missing and patients are dependent on regular ... Tong A (3 June 2019). "EU stamps historic OK on bluebird's gene therapy for β-thalassemia - now sit back and wait for the price ... The FDA approved Phase I clinical trials on thalassemia major patients in the US for 10 participants in July. The study was ...
Beta thalassemia is caused by mutations to or deletions of the HBB gene leading to reduced or absent synthesis of the beta ... 2014). "Initial Results from the Northstar Study (HGB-204): A Phase 1/2 Study of Gene Therapy for β-Thalassemia Major Via ... Betibeglogene autotemcel, sold under the brand name Zynteglo, is a medication for the treatment for beta thalassemia. It was ... "FDA Approves First Cell-Based Gene Therapy to Treat Adult and Pediatric Patients with Beta-thalassemia Who Require Regular ...
HBA2 Thalassemia, Hispanic gamma-delta-beta; 604131; LCRB Thalassemia-beta, dominant inclusion-body; 603902; HBB Thalassemias, ... ACAT1 Alpha-thalassemia myelodysplasia syndrome, somatic; 300448; ATRX Alpha-thalassemia mental retardation syndrome; 301040; ... alpha-; 604131; HBA1 Thalassemias, beta-; 604131; HBB Thanatophoric dysplasia, type I; 187600; FGFR3 Thiamine-responsive ... CYCS Thrombocytopenia with beta-thalassemia, X-linked; 314050; GATA1 Thrombocytopenia, congenital amegakaryocytic; 604498; MPL ...
"What is Thalassemia?". UCSF Benioff Children's Hospital. Retrieved March 8, 2017. "Symptoms and causes - Mayo Clinic". Mayo ... Furthermore, the large presence of thalassemia (Hb H), a disorder in which the alpha gene is dysfunctional, in Southeast Asia ...
Hemoglobin variants Hemoglobinopathy Thalassemia What is Thalassemia? Hemoglobin H Disease and its Variants Hemoglobinopathiesm ... It is the most common nondeletional alpha-thalassemia mutation associated with hemoglobin H disease. The quantity of hemoglobin ...
Chronic conditions such as sickle cell disease and thalassemia, cystic fibrosis, HIV/AIDS, hypothyroidism, chronic kidney ... Castaldi MA, Cobellis L (June 2016). "Thalassemia and infertility". Human Fertility. 19 (2): 90-6. doi:10.1080/14647273.2016. ...
Silent' β-thalassaemia caused by a 'silent' β-chain mutant: the pathogenesis of a syndrome of thalassaemia intermedia. Phaedon ... "The derangement of hemoglobin synthesis in thalassemia". Among his numerous contributions to the field of thalassemia, some of ... He also studied the incidence and distribution of thalassemia in the Greek population, which ultimately led to the design of a ... After his retirement he remained close to the university and the Thalassemia Center offering his services in every way. He ...
Diagnosis is made by DNA analysis for alpha thalassemia and hemoglobin analysis for beta thalassemia. Management of thalassemia ... Thalassemia is an inherited condition that has variants in alpha or beta globin genes that result in lower levels of globin ... The outlook for thalassemia depends on its severity and how consistently it is treated. The most severe forms may cause ... Thalassemias are treated differently depending on severity. Mild cases may be treated with the prescription of a folic acid ...
Conversely, in thalassemia, which is a disorder of globin synthesis, the number of RBCs produced is normal, but the cells are ... It is said to be helpful in differentiating iron deficiency anemia from beta thalassemia trait. The index is calculated from ... "Beta Thalassemia Differential Diagnoses". emedicine.medscape.com. Retrieved 2023-06-28. Joseph Mazza (15 January 2002). Manual ... Mentzer WC (April 1973). "Differentiation of iron deficiency from thalassaemia trait". Lancet. 1 (7808): 882. doi:10.1016/S0140 ...
Depending upon how the terms are being defined, thalassemia can be considered a cause of microcytic anemia, or it can be ... Microcytic anemia is not caused by reduced DNA synthesis[citation needed]. Thalassemia can cause microcytosis. ...
with G.I. Abu-Haydar and N.A. Abu-Haydar) "Thalassemia Hemoglobin E. Disease. A Case Report from Quatar." Persian Gulf, Man., ... "Iron Absorption in Thalassemia." Abstr. IXth Congr. Int. Soc. Haemat. (Stockholm, 1964.) Mishalany, H (April 1973). "Professor ...
"Thalassemia day care centre opened". The New Indian Express. 25 August 2013. "Thalassemia: The growing challenge". Deccan ... Mangalore Jai Shivshakti Center For Thalassemia, Jawaharlal Nehru Medical College, Belgaum Thalassemia and Sickle Cell Centre, ... "Thalassaemia day-care centre to open today". The Hindu. Retrieved 2 September 2017. "People remember Tsunami victims". The ... "Hope for Bengaluru kids with thalassemia". The Times of India. 28 August 2015. "MY Hospital eyes high rate of success in BMT". ...
... making the baby a silent alpha thalassemia carrier, two alpha globin gene deletions (alpha thalassemia), or hemoglobin H ... "Pathophysiology of alpha thalassemia". www.uptodate.com. Retrieved 2016-08-30. van der Dijs FP, Volmer M, van Gijssel-Wiersma ... It is produced in the disease alpha-thalassemia and in the most severe of cases, it is the only form of hemoglobin in ... Wu MY, Xie XM, Li J, Li DZ (October 2015). "Neonatal screening for α-thalassemia by cord hemoglobin Barts: how effective is it ...
Diamond was researching the Beta Thalassemia genetic trait, which he suspected was present in Ashkenazi Jewish families in his ... Diamond, Stanley M. (3 August 2004). "About the beta-thalassemia project". DiamondGen. Retrieved 14 March 2016. Burstein, ...
... thalassemia; (g) genetically, e.g. Huntington's disease, cystic fibrosis; and (h) syndrome, e.g. migraine, torticollis, ...
suggested a prenatal genetic test for Thalassemia that did not rely upon DNA sequencing-then in its infancy-but on restriction ... Application to prenatal diagnosis of beta 0 thalassemia in Sardinia". The New England Journal of Medicine. 302 (4): 185-8. doi: ... "Molecular Diagnostics of β-Thalassemia". Balkan Journal of Medical Genetics. 15 (Suppl): 61-5. doi:10.2478/v10034-012-0021-z. ... molecular diagnostic techniques for Thalassemia use genetic hybridization tests to identify the specific single nucleotide ...
Thalassemias are genetic disorders. There are two main types, alpha thalassemia and beta thalassemia. The severity of alpha and ... Thalassemias are inherited blood disorders that result in abnormal hemoglobin. Symptoms depend on the type of thalassemia and ... The word thalassemia was first used in 1932.: 877 Gene therapy is being studied for thalassemia. The procedure involves ... Thalassemia at Curlie Learning About Thalassemia published by the National Human Genome Research Institute. (All articles with ...
... the most severe form of thalassemia, affects at least 1,000 people in the United States? By staying committed to long-term ... treatment, people with thalassemia can enjoy a full life. ... homeThalassemia Homepage. *What is Thalassemia?plus icon *Quiz ... Living with Thalassemia. Specialized care across the lifespan can help people who have thalassemia live as healthy as possible ... Did you know that beta thalassemia major is the most severe form of thalassemia? By staying committed to long-term treatment, ...
Beta thalassemia is a blood disorder that reduces the production of hemoglobin . Explore symptoms, inheritance, genetics of ... Thalassemia intermedia is milder than thalassemia major. The signs and symptoms of thalassemia intermedia appear in early ... and thalassemia intermedia (which is a non-transfusion-dependent thalassemia). Of the two types, thalassemia major is more ... Thalassemia major and thalassemia intermedia are inherited in an autosomal recessive pattern. , which means both copies of the ...
... α-thalassemia) syndromes are a group of hereditary anemias of varying clinical severity. They are characterized by reduced or ... thalassemia (-α/-α) results in the development of alpha thalassemia trait, also referred to as alpha thalassemia minor or alpha ... Thalassemia is one of the worlds most common single-gene disorders. Individuals with thalassemia syndrome are most often of ... Management of alpha thalassemia. Individuals with mild forms of alpha thalassemia may not require specific treatment except as ...
... with β thalassemia in whom the clinical severity of the disease is somewhere between the mild symptoms of the β thalassemia ... trait and the severe manifestations of β thalassemia major. The diagnosis is a clinical one that is based on the patient ... Thalassemia intermedia is a term used to define a group of patients ... encoded search term (Thalassemia Intermedia) and Thalassemia Intermedia What to Read Next on Medscape ...
Transfusion Management for People with Thalassemia: Understanding a Transfusion Plan. *Transfusion Management for Healthcare ... Transfusion Management for People with Thalassemia: Initiating Regular Transfusions. *Transfusion Management for Healthcare ...
Read real stories from people living with Thalassemia. ... homeThalassemia Homepage. *What is Thalassemia?plus icon *Quiz ... Know that as people with thalassemia approach mid-life, new health challenges may arise that have less to do with thalassemia ... Because of her thalassemia diagnosis, Amys mother tried to prepare her for the possibility that she might not ever marry; as a ... When Amy Pizzulli was born in 1956, her parents were told that the life expectancy for a person born with thalassemia in the ...
... Article Translations: (Spanish). What Is Alpha Thalassemia?. Alpha thalassemia is an inherited blood ... Alpha thalassemia trait (also called alpha thalassemia minor). People with alpha thalassemia minor may have mild anemia, but ... What Are the Different Types of Alpha Thalassemia?. The four main types of alpha thalassemia are:. *Alpha thalassemia carrier. ... What Causes Alpha Thalassemia?. Alpha thalassemia is caused by a mutation (or change) in the gene (or instructions) that ...
Tammy and Mark started researching Thalassemia. They talked to other families who had adopted children with Thalassemia, and ... Maddison, while diagnosed with Thalassemia in China, may not actually have Thalassemia. ... Children with untreated Thalassemia may be stunted or fail to thrive. Without medical care, their bellies swell and they may ... Thalassemia can cause chronic fatigue, jaundice and anemia. As it progresses, iron fills the liver or spleen, eventually ...
Thalassemias are inherited blood disorders. They affect your ability to make hemoglobin. This can cause anemia. Learn about the ... Alpha Thalassemia (For Parents) (Nemours Foundation) Also in Spanish * Beta Thalassemia (For Parents) (Nemours Foundation) Also ... Thalassemia (Mayo Foundation for Medical Education and Research) Also in Spanish * What Is Thalassemia? (Centers for Disease ... ClinicalTrials.gov: beta-Thalassemia (National Institutes of Health) * ClinicalTrials.gov: Thalassemia (National Institutes of ...
... and hypercoagulability in patients with thalassemia. Independently increased ROS has been linked to a myriad of pathological ... The term Nontransfusion dependent thalassaemia (NTDT) was suggested to describe patients who had clinical manifestations that ... In a recent study addressing pulmonary hypertension in thalassemia, patients with β-thalassemia intermedia (TI) had a 5-fold ... A. Aessopos, D. Farmakis, S. Deftereos et al., "Thalassemia heart disease: a comparative evaluation of thalassemia major and ...
... when both the parents carry the thalassemia trait, it leads to 25% of transmittance of the affliction in offspring. ... Prime cause of thalassemia is the inheritance of the affliction, ... Home Health Center Thalassemia Thalassemia - Causes Causes of ... The prime cause of thalassemia is the inheritance of the affliction in recessive fashion. When both the parents carry the ... When both the parents are thalassemia positive, genetic check-up and counseling is recommended to prevent or avert the ...
Jitesh Sharma presents a case of Leucorrhoea and Thalassemia. ... Homeopathy Treatment for Thalassemia) ". "Actually all problems ... No strength . Was diagnosed with Sickle cell disease/ thalassemia ( ...
FDA approves the first cell-based gene therapy to treat adult and pediatric patients with beta-thalassemia who require regular ... Beta-thalassemia is a type of inherited blood disorder that causes a reduction of normal hemoglobin and red blood cells in the ... Home Topics Genome Editing FDA Approves Bluebird Bios Lentiviral Gene Therapy to Treat Beta-Thalassemia ... Transfusion-dependent beta-thalassemia, the most severe form of the condition, generally requires life-long red blood cell ...
In the homozygous state, beta thalassemia (ie, thalassemia major) causes severe, transfusion-dependent anemia. ... Beta thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of beta- ... The therapeutic approach to thalassemia varies between thalassemia minor and thalassemia major. ... Thalassemia minor. Patients with thalassemia minor usually do not require any specific treatment. Inform patients that their ...
... in celebrating the World Thalassemia Day through various activities and events at schools, colleges and other institutions to ... People who have alpha or beta thalassemia trait can have mild anemia. However, many people who have these types of thalassemia ... Thalassemia is an inherited blood disorder that affects the bodys ability to create red blood cells, where the body makes an ... Thalassemia patients need more than medical treatment to be able to continue their fight against the disease, Deputy Chairman ...
Thalassemia minor is sometimes accompanied by mild anemia and on rare occasions can lead to minor swelling of the spleen. ... Individuals that are diagnosed with thalassemia minor have inherited the disorder from only one parent, making them ... thalassemia. In fact, the condition is often asymptomatic, though patients with the disease produce red blood cells that are ... Thalassemia minor is the least serious of the forms of beta  ...
Alpha thalassemia is a blood disorder that reduces how well the body produces healthy red blood cells and normal hemoglobin. ... Alpha Thalassemia What is alpha thalassemia?. Alpha thalassemia is a type of thalassemia that is inherited (passed down through ... What are the signs and symptoms of alpha thalassemia?. Signs and symptoms of alpha thalassemia are caused by a lack of oxygen ... How is alpha thalassemia treated?. Treatment is based on the type and severity of alpha thalassemia. People who are carriers of ...
Scientists Edit Beta-thalassemia Gene in Human Zygotes with CRISPR/Cas9 Apr 22, 2015 , staff reporter ... part of the beta-globin gene cluster and the gene that is mutated in beta-thalassemia, a blood disease that can be fatal, ... genome editing system in non-viable human zygotes to modify the gene that causes the hereditary blood disease beta-thalassemia. ...
Severe alpha thalassemia may lead to fetal demise or a life-long need for chronic transfusions with multiple medical ... Develop lentiviral vectors carrying human alpha-globin gene for gene therapy of alpha thalassemia (AT) and perform initial ... Test the activities of the vectors in a mouse model of alpha-thalassemia.. ... to define the final therapeutic candidate for effective hematopoietic stem cell gene therapy to treat severe alpha thalassemia ...
Beta Thalassemia Major: Hadils Story. Bone marrow transplant offers teen with rare blood disorder hope for better health. ... Untreated thalassemia major eventually leads to death, but Hadil has received blood transfusions every three weeks to replenish ... Hadil Alkhatib was born half a world away with an inherited blood disorder called beta thalassemia major. The form of this ... "Based on the literature, BMT is considered a viable treatment for beta thalassemia major, especially in younger patients," Dr. ...
The Cooleys Anemia Foundation is dedicated to serving people afflicted with various forms of thalassemia, most notably the ...
No Patient Alone - Curatio uses the power of private social networks to make living with a health challenge less isolating
The Sickle Cell and Thalassemia Program at Texas Childrens Cancer and Hematology Center offers comprehensive family-centered ... The Sickle Cell and Thalassemia Program offers the latest disease modifying therapies (e.g., hydroxyurea), transfusions and ... In addition, our program offers comprehensive services for thalassemia, including endocrinology, and imaging for management of ... Texas Childrens Sickle Cell and Thalassemia Program offers excellent ambulatory services, including outpatient blood ...
Click on the Learn about Thalassemia bar in the top menu to find links to vital information. ... Learn about Thalassemia. Thalassemia is a complicated disorder. Click on the "Learn about Thalassemia" bar in the top menu to ...
Plasma levels of IL-3 and IL-7 were studied in 23 patients with homozygous beta-thalassemia in order to determine whether these ... Plasma interleukin-3 (IL-3) and IL-7 concentrations in children with homozygous beta-thalassemia J Trop Pediatr. 1997 Dec;43(6 ... Plasma levels of IL-3 and IL-7 were studied in 23 patients with homozygous beta-thalassemia in order to determine whether these ... controls and it was suggested that IL-7 is not a cytokine involved in cellular immunological alterations in beta-thalassemia. ...
Thalassaemia is an inherited blood disorder that causes a person to be unable to produce normal, functioning haemoglobin in the ... Thalassaemia major. A person who has inherited one thalassaemia gene is said to have thalassaemia minor (thalassaemia trait). ... Thalassaemia - What it is What Is Thalassaemia?. Thalassaemia is an inherited blood disorder which is caused by an abnormal ... Since thalassaemia can be passed on from one generation to another, you and your partner should go for a thalassaemia screening ...
Use the links on the right (or below on mobile) to make a donation to Save lives of Children with Thalassemia by credit card, ... Donate to Save lives of Children with Thalassemia by:. *. Credit card, Debit card, PayPal, or Apple Pay ... Text Give to 44938 to (+1)6232GIVING / (+1)623-244-8464 to donate to Save lives of Children with Thalassemia. Message and data ... Use the links on the right (or below on mobile) to make a monthly recurring donation to Save lives of Children with Thalassemia ...
Nita Munshi has dedicated her professional life to caring for and treating Thalassemia patients. ... SCIT Pune has a Thalassemia Awareness Program. Dr. ... Thalassemia, is also such a disease which is inherited from ... Thalassemia Society, Pune Chapter, shared their target of zero Thalassemia patients by 2020 and requested students to take ... Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate ...
... there is also an a-thalassemia). The disease is most prevalent in the Mediterranean region; and thalassa is Greek for sea, ... Beta-thalassemia is a rare blood disorder in which hemoglobin is improperly formed due to an inherited genetic defect (mutation ... The therapy was said to be effective for those with β-thalassemia minor, but not for those with β-thalassemia major. ... Wu Zhikui, et al., The effect of Bushen Shengxue Fang on β-thalassemia at the gene level, Journal of Traditional Chinese ...
  • Beta thalassemia is classified into two types depending on the severity of symptoms: thalassemia major (also known as transfusion-dependent thalassemia or Cooley's anemia) and thalassemia intermedia (which is a non-transfusion-dependent thalassemia). (medlineplus.gov)
  • Thalassemia intermedia is milder than thalassemia major. (medlineplus.gov)
  • The signs and symptoms of thalassemia intermedia appear in early childhood or later in life. (medlineplus.gov)
  • people with both types have been diagnosed with thalassemia major and thalassemia intermedia. (medlineplus.gov)
  • Peripheral blood film in thalassemia intermedia. (medscape.com)
  • [ 1 ] In beta thalassemia intermedia, hemoglobin analysis reveals elevated levels of HbF and HbA2. (medscape.com)
  • The diagnosis of beta thalassemia intermedia does not always require DNA-based genotyping, but such analysis may aid in recognizing complex thalassemias such as delta-beta and gamma-delta-delta thalassemia. (medscape.com)
  • [ 1 ] Genetic analysis may also help to differentiate thalassemia intermedia from thalassemia major. (medscape.com)
  • For example, the presence of IVSI‐5 homozygous with Xmn‐1 is a strong indicator of thalassemia intermedia, but genetic heterogeneity means that this method is not in routine use. (medscape.com)
  • Yathiraj PH, Singh A, Vidyasagar S, Varma M, Mamidipudi V. Excellent and durable response to radiotherapy in a rare case of spinal cord compression due to extra-medullary hematopoiesis in β-thalassemia intermedia: case report and clinicoradiological correlation. (medscape.com)
  • Evaluation of the Clinical and Laboratory Characteristics of Previously Followed-up Thalassemia Intermedia Patients to Provide Them Better Care in the Future. (medscape.com)
  • The primary forms of NTDT include β -thalassemia intermedia, hemoglobin E (HbE) β -thalassemia, and hemoglobin H disease [ 9 ]. (hindawi.com)
  • Blood transfusions are required for beta-thalassemia intermedia and major, but are associated with iron overload complications. (bmj.com)
  • Compound heterozygosity of beta-thalassemia with hemoglobin E mutations results in a phenotype more severe than either beta-thalassemia trait or hemoglobin E mutations alone, similar to beta-thalassemia major or intermedia. (bmj.com)
  • If patients have hemoglobin H disease or beta-thalassemia intermedia, he may need blood transfusions on occasion. (pediatriconcall.com)
  • Thalassemias are genetic disorders. (wikipedia.org)
  • Workup in alpha thalassemia relies primarily on laboratory evaluation, hemoglobin electrophoresis, and genetic testing (alpha thalassemia mutations panel). (medscape.com)
  • Thalassemia is diagnostically confirmed via hemoglobin analysis and genetic testing. (medscape.com)
  • A genetic counselor can help families understand the different ways alpha thalassemia runs in families. (childrensmn.org)
  • When both the parents are thalassemia positive, genetic check-up and counseling is recommended to prevent or avert the affliction in the progeny. (home-remedies-for-you.com)
  • In addition to successfully treating children with a range of cancer diagnoses, the BMT team also has successfully transplanted patients with other conditions such as bone marrow failure syndromes, immunodeficiency, metabolic disorders, genetic disorders and thalassemia. (childrensmercy.org)
  • The Cooley's Anemia Foundation is dedicated to serving people afflicted with various forms of thalassemia, most notably the major form of this genetic blood disease, Cooley's anemia/thalassemia major. (chop.edu)
  • Texas Children's Sickle Cell and Thalassemia Program offers excellent ambulatory services, including outpatient blood transfusion and pain treatment programs, a sickle cell pulmonary clinic, sickle cell stroke clinic and genetic counseling, all in one location. (texaschildrens.org)
  • If you or your partner has thalassaemia minor, both of you should see a doctor for genetic counselling before you plan to get married or have a child. (kkh.com.sg)
  • The National Thalassaemia Registry provides genetic counselling for people with thalassaemia and screening for their families. (kkh.com.sg)
  • β-thalassemia is a rare blood disorder in which hemoglobin is improperly formed due to an inherited genetic defect (mutation). (itmonline.org)
  • β-Thalassemia (BT) is an inherited genetic disorder that is characterized by ineffective erythropoiesis (IE), leading to anemia and abnormal iron metabolism. (thalassaemia.org.cy)
  • The Genetic Variability of Thalassaemia. (bmj.com)
  • Because thalassemias are passed from parents to children through genes, family genetic studies also can help diagnose the disorder. (hoacny.com)
  • If you know of family members who have thalassemias and you're thinking of having children, consider talking with your doctor and a genetic counselor. (hoacny.com)
  • A 25-year-old female, diagnosed with hemoglobin E (HbE)-beta thalassemia at 4 years of age by genetic testing, requiring monthly packed red blood cell transfusion (transfusion dependent) had Xmn1 polymorphism +/-genotype. (jpgmonline.com)
  • Thalassaemia is among the most common genetic diseases worldwide ( Quirolo and Vichinnky, 2007 ) and constitutes a major health problem. (scialert.net)
  • 2 Clinical genetic data accumulated over the last 30 years indicate that a natural reduction in α-globin chain output by 25-50%, resulting from co-inherited α-thalassemia, ameliorates the disease phenotype in patients with β-thalassemia. (haematologica.org)
  • A brief review considered selected genetic variants and associated diseases such as red blood cell traits and predisposure to acute hemolytic anemia for persons with glucose-6-dehydrogenase deficiency, the occurrence of sickle cell anemia in individuals having a specific change in the amino acid structure of the peptide chains of hemoglobin, and the occurrence of thalassemia major due to a genetic defect in the rate of hemoglobin synthesis. (cdc.gov)
  • People with severe thalassemia can have various medical complications. (cdc.gov)
  • Georgia State University, the Joan & Sanford I. Weill Medical College of Cornell University, and the University of California San Francisco have been awarded funding to look at transfusion-related complications in people with hemoglobin disorders (sickle cell disease and thalassemia) and develop approaches for reducing these complications. (cdc.gov)
  • They eventually married, and Ted has been extremely supportive as Amy has also managed diabetes and osteoporosis , complications associated with thalassemia. (cdc.gov)
  • In the past, almost all babies with alpha thalassemia major died before or shortly after birth from complications of extreme anemia. (childrensmn.org)
  • Patients who carry the trait are often asymptomatic and continue to live a normal life, while β -thalassemia major patients suffer from many complications that may be ameliorated due to lifelong transfusions. (hindawi.com)
  • Severe alpha thalassemia may lead to fetal demise or a life-long need for chronic transfusions with multiple medical complications, especially iron overload from transfusions. (ca.gov)
  • An important part of managing thalassemias is treating complications. (pediatriconcall.com)
  • Key Features - Provides a ready reference for dental and orofacial features in thalassemia major including a review of appropriate dental care - Covers the pathogenesis, systemic complications, morbidity and mortality, management, and prevention of thalassemia major. (benthamscience.com)
  • Often there is mild to severe anemia (low red blood cells or hemoglobin) as thalassemia can affect the production of red blood cells and also affect how long the red blood cells live. (wikipedia.org)
  • If a doctor has prescribed either blood transfusions (a routine medical procedure using donated blood) or chelation therapy, the most important thing a person with thalassemia can do is stick to their treatment schedules to prevent severe anemia (low numbers of red blood cells) and possible organ damage from iron overload . (cdc.gov)
  • To better understand the challenges of keeping up with thalassemia treatment, CDC funds the Cooley's Anemia Foundation (CAF) to continue providing outreach to people who have thalassemia. (cdc.gov)
  • Alpha thalassemia combined with sickle-cell anemia results in a higher hemoglobin concentration and improved RBC survival. (medscape.com)
  • Study results found in thalassemia-including negative Coombs testing, low haptoglobin, elevated lactate dehydrogenase, and elevated indirect bilirubin-are also derived in nonimmune hemolytic anemia. (medscape.com)
  • Depending on the type of alpha thalassemia, anemia can be very mild or very severe. (childrensmn.org)
  • People with alpha thalassemia minor may have mild anemia, but usually don't need any medical treatment. (childrensmn.org)
  • People with alpha thalassemia trait have a very mild anemia. (childrensmn.org)
  • The imbalance in alpha and beta globin causes anemia and leads to the other medical problems from alpha thalassemia. (childrensmn.org)
  • This imbalance causes anemia and the other medical problems of alpha thalassemia. (childrensmn.org)
  • Thalassemia can cause chronic fatigue, jaundice and anemia. (rainbowkids.com)
  • Thalassemia is an entity involving a collection of inherited diseases caused by defective or absent hemoglobin chain synthesis leading to anemia due to ineffective erythropoiesis. (hindawi.com)
  • People who have alpha or beta thalassemia trait can have mild anemia. (emirates247.com)
  • Thalassemia minor is sometimes accompanied by mild anemia and on rare occasions can lead to minor swelling of the spleen. (microscopyu.com)
  • If two genes are missing-a person has alpha thalassemia trait (also called alpha thalassemia minor) and may have mild anemia. (stjude.org)
  • Major beta thalassemia (Cooley's anemia), occurs when there are severe symptoms such as problems with the bone marrow, and severe anemia. (tutorialspoint.com)
  • Diagnosis − Beta thalassemia is diagnosed by looking for hemolytic anemia by examining a red blood cell smear under the microscope. (tutorialspoint.com)
  • Beta-thalassemia is an inherited microcytic anemia caused by mutation(s) of the beta-globin gene leading to decreased or absent synthesis of beta-globin, resulting in ineffective erythropoiesis. (bmj.com)
  • If the patient has beta-thalassemia major (Cooley's anemia), he will likely need regular blood transfusions (often every 2 to 4 weeks). (pediatriconcall.com)
  • 1. Piomelli S, Loew T. Management of thalassemia major (Cooley's anemia) Hematol Oncol Clin North Am 1991, 5: 557-69. (pediatriconcall.com)
  • People who have milder forms of thalassemia might be diagnosed after a routine blood test shows they have anemia. (hoacny.com)
  • Doctors might suspect thalassemia if a person has anemia and is a member of an ethnic group that's at increased risk for thalassemias. (hoacny.com)
  • Doctors also test the amount of iron in the blood to find out whether the anemia is due to iron deficiency or thalassemia. (hoacny.com)
  • The anemia in thalassemia occurs because of a problem with either the alpha globin or beta globin chains of hemoglobin, not because of a lack of iron. (hoacny.com)
  • Discrimination of beta-thalassemia minor and iron deficiency anemia by" by AZIZ BATEBI, ABOLGHASEM POURREZA et al. (tubitak.gov.tr)
  • To assess the state of iron deficiency anemia and thalassemia minor among couples intending to marry at the Molla Hadi Sabzevari Health Clinic in Isfahan, Iran. (tubitak.gov.tr)
  • Of these 901 persons, 444 had developed beta-thalassemia, and 457 had iron deficiency anemia or were affected by other causes of microcytosis and hypochromia. (tubitak.gov.tr)
  • Thalassemia major (TM) is associated with the most serious clinical changes and life-threatening risk and is characterized by the triad of chronic anemia, ineffective erythropoiesis, and iron overload. (benthamscience.com)
  • Thalassemia is the world's most common form of inherited anemia, and in economically undeveloped countries still accounts for tens of thousands of premature deaths every year. (haematologica.org)
  • 1 The accumulation of free excess α-globin chains in red blood cells and their precursors, as a result of the decreased production of β-globin, is believed to be the main pathophysiological mechanism leading to hemolytic anemia and ineffective erythropoiesis in β-thalassemia. (haematologica.org)
  • In alpha-thalassemia minor and beta-thalassemia minor, people have mild anemia with no symptoms. (msdmanuals.com)
  • Variants (also known as mutations) in the HBB gene cause beta thalassemia. (medlineplus.gov)
  • Mutations and gene deletions causing the various thalassemia genotypes have arisen independently in different populations but have subsequently propagated by means of natural selection. (medscape.com)
  • However, beta thalassemia may still exist when the HbA2 level is normal, with such concentrations dropping into the normal range in the presence of conditions such as concomitant iron deficiency and delta-chain mutations. (medscape.com)
  • Someone who inherits two alpha thalassemia mutations has alpha thalassemia trait . (childrensmn.org)
  • Someone who inherits three alpha thalassemia mutations has hemoglobin H disease . (childrensmn.org)
  • Someone who inherits four alpha thalassemia mutations has alpha thalassemia major or hydrops fetalis . (childrensmn.org)
  • Beta-thalassemia is a type of inherited blood disorder that causes a reduction of normal hemoglobin and red blood cells in the blood, through mutations in the beta-globin subunit, leading to insufficient delivery of oxygen in the body. (genengnews.com)
  • Beta thalassemia is where there is a reduced formation of beta polypeptide chains because of mutations in the beta globin genes that occur on chromosome 11. (tutorialspoint.com)
  • Alpha thalassemia is caused by mutations in the genes that control the production of alpha globin, one of the two types of protein chains that make up hemoglobin. (tutorialspoint.com)
  • In alpha-thalassemia, the inheritance of two mutations (out of four genes) can provide mild or no symptoms that are typical of thalassemia minor. (healthtap.com)
  • A) with Deletional and Nondeletional a + -Thalassemia Mutations: Diverse Hematological and Clinical Features. (medscape.com)
  • There have been few studies on the mutations that cause heterozygous beta-thalassemia and how they affect the iron profile. (bvsalud.org)
  • What Are the Signs & Symptoms of Hemoglobin H Disease or Alpha Thalassemia Major? (childrensmn.org)
  • Thousands of infants are born with alpha thalassemia trait or hemoglobin H disease each year, but it is most common in Southeast Asia. (stjude.org)
  • The symptoms for people with hemoglobin H disease vary depending on the type of alpha thalassemia. (stjude.org)
  • 1000 µg/L or a diagnosis of hemochromatosis or thalassemia - were 60% more likely to have an osteoporotic fracture during an up to 10-year follow-up than matched control patients, in a large study. (medscape.com)
  • In people with beta thalassemia, low levels of hemoglobin reduce oxygen levels in the body. (medlineplus.gov)
  • People with beta thalassemia are at an increased risk of developing abnormal blood clots. (medlineplus.gov)
  • and other associated health problems in people with beta thalassemia. (medlineplus.gov)
  • The FDA approval of Zynteglo offers people with beta-thalassemia the possibility of freedom from burdensome regular red blood cell transfusions and iron chelation, and unlocks new possibilities in their daily lives," said Andrew Obenshain, CEO of Bluebird Bio. (genengnews.com)
  • As the first ex vivo lentiviral vector gene therapy approved in the U.S. for the treatment of people with beta-thalassemia, we are ushering in a new era in which gene therapy has the potential to transform existing treatment paradigms for diseases that currently carry a lifelong burden of care. (genengnews.com)
  • The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin are missing. (wikipedia.org)
  • Thalassemia is a group of blood disorders passed from parents to children through genes (inherited). (cdc.gov)
  • When these genes are altered (changed) or missing, thalassemia occurs. (stjude.org)
  • People who have moderate to severe forms of alpha thalassemia have inherited faulty hemoglobin genes from both parents. (stjude.org)
  • If all four genes are missing-a person has alpha thalassemia major (also called hemoglobin Bart's or hydrops fetalis). (stjude.org)
  • A parent with alpha globin-making genes that are altered or missing, may have a child with a form of alpha thalassemia. (stjude.org)
  • The affected person has inherited two thalassaemia genes, one from each parent. (kkh.com.sg)
  • when both genes are affected, the disease is called β-thalassemia major. (itmonline.org)
  • Alpha thalassemia is the condition where there is a reduced formation of alpha polypeptide chains because of an absence of alpha genes. (tutorialspoint.com)
  • There are two forms of alpha thalassemia depending on what genes are missing. (tutorialspoint.com)
  • Inheritance of one f these genes will cause a thalassemia minor. (healthtap.com)
  • The UAE is joining the world tomorrow, Monday, in celebrating the World Thalassemia Day through various activities and events at schools, colleges and other institutions to promote awareness of the disease in cooperation with government and private organisations. (emirates247.com)
  • An estimated 1/3 of people with thalassemia have "non-transfusion dependent thalassemia" and do not depend on regularly continuing blood transfusions to survive. (wikipedia.org)
  • The pattern of iron accumulation and the predilection of iron to target organs in NTDT is markedly different from transfusion-dependent thalassemia (TDT). (hindawi.com)
  • The alpha thalassemia (α-thalassemia) syndromes are a group of hereditary anemias of varying clinical severity. (medscape.com)
  • Scientists from Sun Yat-sen University in Guangzhou, China, led by Canquan Zhou and Junjiu Huang, used the CRISPR/Cas9 genome editing system in non-viable human zygotes to modify the gene that causes the hereditary blood disease beta-thalassemia. (genomeweb.com)
  • Thalassemia is a group of hereditary hemoglobinopathies. (benthamscience.com)
  • 1000 µg/L is not common, and hereditary hemochromatosis or thalassemia also are very rare," she noted. (medscape.com)
  • Those who have minor degrees of thalassemia, in common with those who have sickle-cell trait, have some protection against malaria, explaining why sickle-cell trait and thalassemia are more common in regions of the world where the risk of malaria is higher. (wikipedia.org)
  • CDC funds the Association of Public Health Laboratories (APHL) to provide assistance to laboratories that perform hemoglobinopathy (thalassemia or sickle cell disease) screening. (cdc.gov)
  • The Sickle Cell and Thalassemia Program at Texas Children's Cancer and Hematology Center offers comprehensive family-centered care for children with these complex blood disorders. (texaschildrens.org)
  • The Sickle Cell and Thalassemia Program offers the latest disease modifying therapies (e.g., hydroxyurea), transfusions and stem cell transplantation. (texaschildrens.org)
  • The politics of sickle cell and thalassaemia / Elizabeth N. Anionwu and Karl Atkin. (who.int)
  • Did you know that beta thalassemia major is the most severe form of thalassemia? (cdc.gov)
  • These are words spoken by Radhika Sawh, a woman born with beta thalassemia major , one of the transfusion-dependent forms of the blood disorder thalassemia. (cdc.gov)
  • Of the two types, thalassemia major is more severe. (medlineplus.gov)
  • The signs and symptoms of thalassemia major appear within the first 2 years of life. (medlineplus.gov)
  • Puberty is delayed in some adolescents with thalassemia major. (medlineplus.gov)
  • Many people with thalassemia major have such severe symptoms that they need frequent blood transfusions to replenish their red blood cell supply. (medlineplus.gov)
  • Alpha thalassemia major (also called hydrops fetalis ). (childrensmn.org)
  • After they're born, babies with alpha thalassemia major need frequent blood transfusions to survive. (childrensmn.org)
  • People with hemoglobin H and alpha thalassemia major also buildup extra iron in the body, either from the disease itself or from frequent blood transfusions. (childrensmn.org)
  • The term Nontransfusion dependent thalassaemia (NTDT) was suggested to describe patients who had clinical manifestations that are too severe to be termed minor yet too mild to be termed major. (hindawi.com)
  • As opposed to thalassemia major, where transfusional induced iron overload is targeted towards the reticuloendothelial system and parenchyma, iron is amassed in patients with NTDT that differ, primarily occurs in hepatocytes [ 10 - 13 ]. (hindawi.com)
  • The rate of iron loading is significantly different in thalassemia major ranging between 0.30 and 0.60 mg/kg/day versus 0.01 mg/kg/day in NTDT [ 14 ]. (hindawi.com)
  • The therapeutic approach to thalassemia varies between thalassemia minor and thalassemia major. (medscape.com)
  • In their study of 116 patients (51 males and 65 females) with thalassemia major, males were receiving more units of RBCs per transfusion and had a higher annual transfusion volume, but with correction for weight, females were receiving a higher transfused volume per kg: 225 versus 202 mL/kg in males ( P =0.028). (medscape.com)
  • Allogeneic hematopoietic transplantation may be curative in some patients with thalassemia major. (medscape.com)
  • Since the first successful gene therapy for thalassemia major, in 2007, researchers have worked to improve the efficacy and safety of the procedure. (medscape.com)
  • Hadil Alkhatib was born half a world away with an inherited blood disorder called beta thalassemia major. (childrensmercy.org)
  • Untreated thalassemia major eventually leads to death, but Hadil has received blood transfusions every three weeks to replenish her red blood cell supply. (childrensmercy.org)
  • The disorder also is inherited, and Hadil has two younger brothers who have beta thalassemia major. (childrensmercy.org)
  • Based on the literature, BMT is considered a viable treatment for beta thalassemia major, especially in younger patients," Dr. Ahmed explained. (childrensmercy.org)
  • Thalassaemia major. (kkh.com.sg)
  • Thalassaemia major is a severe form of anaemia. (kkh.com.sg)
  • At present, a bone marrow transplant is the only hope of possible cure for thalassaemia major. (kkh.com.sg)
  • None of the couple's children will get thalassaemia major. (kkh.com.sg)
  • If you are already pregnant and both you and your husband have thalassaemia minor, you should go for a prenatal diagnostic test to find out whether your unborn baby has thalassaemia major. (kkh.com.sg)
  • The therapy was said to be effective for those with β-thalassemia minor, but not for those with β-thalassemia major. (itmonline.org)
  • Cardiomegaly, prominent main pulmonary artery (44 mm), splenectomy and high attenuation liver (iron overload) - all part of the underlying beta-thalassemia major. (radiopaedia.org)
  • This case demonstrates an array of findings of beta-thalassemia major. (radiopaedia.org)
  • Patients with beta-thalassaemia major and asplenia have an increased risk of encapsulated bacterial infections. (scialert.net)
  • The Hib antibody concentrations were investigated in 850 patients with thalassaemia major, of whom 437 had undergone splenectomy. (scialert.net)
  • A Hib vaccine recommendation for splenectomised thalassaemia major seems essential. (scialert.net)
  • This monograph updates the reader on the dental and orofacial characteristics of thalassemia major in Arab populations. (benthamscience.com)
  • Clinical, radiographic and odontometric features of the typical thalassemia major patient are clearly described in this book. (benthamscience.com)
  • As brand ambassador of Thalassemia India, Jackie told IANS: "The basic fact is that if both the parents are thalassemia minors, then the possibility is high that the child would be born as thalassemia major. (india4u.com)
  • Sharing why he feels for the cause deeply, he said: "My daughter Krishna could have been a thalassemia major if my mother-in-law wasn't aware of it. (india4u.com)
  • We were apprehensive that our baby could be a thalassemia major. (india4u.com)
  • Children who have beta-thalassemia major may grow more slowly and reach puberty later than they normally would. (msdmanuals.com)
  • Someone with alpha thalassemia has a change (or mutation) in the alpha globin gene that causes less alpha globin to be made than typical. (childrensmn.org)
  • Develop lentiviral vectors carrying human alpha-globin gene for gene therapy of alpha thalassemia (AT) and perform initial tests in a cell line. (ca.gov)
  • Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions. (medscape.com)
  • [ 10 ] Individuals with beta thalassemia syndromes have somewhat better protection against malaria than individuals with alpha thalassemia syndromes. (medscape.com)
  • The thalassaemia syndromes / D. J. Weatherall and J. B. Clegg. (who.int)
  • Symptoms depend on the type of thalassemia and can vary from none to severe. (wikipedia.org)
  • Alpha thalassemia is a type of thalassemia that is inherited (passed down through families). (stjude.org)
  • Symptoms depend on the type of thalassemia. (msdmanuals.com)
  • Puberty may also be delayed in children with thalassemia. (wikipedia.org)
  • Irregular treatment leaves children with Thalassemia tired, unable to run and play regularly, and uncomfortable since they may experience swelling in their feet or bellies. (rainbowkids.com)
  • Blood shortages in China leave children with Thalassemia at even greater risk. (rainbowkids.com)
  • Text Give to 44938 to (+1)6232GIVING / (+1)623-244-8464 to donate to Save lives of Children with Thalassemia. (globalgiving.org)
  • If your sponsoring-organization is not listed below, ask them to disburse funds to the GlobalGiving Foundation designated for Save lives of Children with Thalassemia (Project #44938) . (globalgiving.org)
  • In the comments box, please enter #44938 - Save lives of Children with Thalassemia and complete the Recommend a Grant process. (globalgiving.org)
  • The city of Dhaka, Bangladesh hosted on January 28 - 31, 2019 the "International Thalassaemia Conference 2019", gathering researchers, doctors, and patients with thalassaemia from many countries. (thalassaemia.org.cy)
  • Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. (medscape.com)
  • The combination of thalidomide and hydroxyurea resulted in hemoglobin levels increasing significantly in transfusion-dependent and non-transfusion dependent patients As of 2015, thalassemia occurs in about 280 million people, with about 439,000 having severe disease. (wikipedia.org)
  • Transfusions of red blood cells are the main treatment for people who have moderate or severe thalassemias. (pediatriconcall.com)
  • But only a small number of people who have severe thalassemias are able to find a good donor match and have a risky procedure. (pediatriconcall.com)
  • Better treatments now allow people who have moderate and severe thalassemias to live longer. (pediatriconcall.com)
  • Moderate and severe thalassemias usually are diagnosed in early childhood. (hoacny.com)
  • Doctors diagnose thalassemias using blood tests. (medlineplus.gov)
  • Doctors diagnose thalassemias using blood tests , including a complete blood count (CBC) and special hemoglobin tests. (hoacny.com)
  • Guideline] Taher A, Musallam K, Cappellini MD. Guidelines for the Management of Non Transfusion Dependent Thalassaemia (NTDT) . (medscape.com)
  • Thalassemias are inherited blood disorders that result in abnormal hemoglobin. (wikipedia.org)
  • Thalassemia patients who do not respond well to blood transfusions can take hydroxyurea or thalidomide, and sometimes a combination of both. (wikipedia.org)
  • Iron overload: People with thalassemia can get an overload of iron in their bodies, either from the disease itself or from frequent blood transfusions. (wikipedia.org)
  • Thalassemia is often accompanied by the destruction of a large number of red blood cells and the task of removing these cells causes the spleen to enlarge. (wikipedia.org)
  • A person who has thalassemia makes fewer healthy red blood cells. (cdc.gov)
  • Thalassemia is a treatable disorder that can be well-managed with blood transfusions and chelation therapy . (cdc.gov)
  • A person with thalassemia will need to receive medical care on a regular basis from a hematologist (a medical specialist who treats diseases or disorders of the blood). (cdc.gov)
  • Beta thalassemia is a blood disorder that reduces the production of hemoglobin . (medlineplus.gov)
  • Beta thalassemia is a fairly common blood disorder worldwide. (medlineplus.gov)
  • Alpha thalassemia is an inherited blood disorder in which the body doesn't make as much alpha globin. (childrensmn.org)
  • Thalassemias are inherited blood disorders. (medlineplus.gov)
  • In the United States, as long as patients have regular access to a hospital and a doctor with knowledge about Thalassemia, it's a relatively simple condition to control with regular blood transfusions and iron-controlling medications. (rainbowkids.com)
  • The FDA has approved Bluebird Bio's Zynteglo as the first cell-based gene therapy for the treatment of adult and pediatric patients with beta-thalassemia who require regular red blood cell transfusions. (genengnews.com)
  • Today's approval is an important advance in the treatment of beta-thalassemia, particularly in individuals who require ongoing red blood cell transfusions," said Peter Marks, MD, PhD, director of the FDA's Center for Biologics Evaluation and Research. (genengnews.com)
  • Transfusion-dependent beta-thalassemia, the most severe form of the condition, generally requires life-long red blood cell transfusions as the standard course of treatment. (genengnews.com)
  • Students from public and private institutions across the UAE participated in competition organised to raise awareness of thalassemia, an inherited blood disorder that affects the body's ability to create red blood cells. (emirates247.com)
  • Thalassemia is an inherited blood disorder that affects the body's ability to create red blood cells, where the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. (emirates247.com)
  • Because alpha thalassemia is inherited, family history and ancestry can help diagnose this blood disorder. (stjude.org)
  • Alpha thalassemia is one of the most common blood disorders in the world. (stjude.org)
  • Blood transfusions -are the main treatment for people with severe alpha thalassemia. (stjude.org)
  • The scientists directed the CRISPR/Cas9 editing system to the human beta-globin gene HBB, part of the beta-globin gene cluster and the gene that is mutated in beta-thalassemia, a blood disease that can be fatal, depending on the specific mutation. (genomeweb.com)
  • Thalassaemia is an inherited blood disorder which is caused by an abnormal gene. (kkh.com.sg)
  • A person with thalassaemia is unable to produce normal, functioning haemoglobin in the blood. (kkh.com.sg)
  • Thalassaemia screening involves a simple blood test and is available at all polyclinics. (kkh.com.sg)
  • Thalassemia is a group of inherited blood disorders that affect the production of hemoglobin, the protein that carries oxygen in the blood. (tutorialspoint.com)
  • Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. (scit.edu)
  • This will allow people who have thalassemias to make their own healthy red blood cells and hemoglobin. (pediatriconcall.com)
  • People who have thalassemias have fewer healthy red blood cells and less hemoglobin than normal in their blood. (hoacny.com)
  • People who have alpha or beta thalassemia trait may have red blood cells that are smaller than normal. (hoacny.com)
  • Mumbai, April 18 : Actor Jackie Shroff has urged young couples to be aware about thalassemia and to go for a blood test before planning a family so that the next generation can be born free of the condition. (india4u.com)
  • When my wife was pregnant, she only suggested her to check our blood and we found out that both of us are thalassemia minors. (india4u.com)
  • In this study production levels of interleukins (IL)-12 and IL-13 were measured by commercial ELISA in culture supernatants of mitogen-stimulated peripheral blood mononuclear cells from 30 non-splenectomized beta-thalassaemia cases with iron overload and 20 age- and sex-matched healthy individuals. (who.int)
  • Thalassemias are a group of inherited disorders resulting from an imbalance in the production of one of the four chains of amino acids that make up hemoglobin (the oxygen-carrying protein found in red blood cells). (msdmanuals.com)
  • Alpha thalassemia is caused by a mutation (or change) in the gene (or instructions) that controls how much alpha globin to make. (childrensmn.org)
  • In alpha thalassemia, the body makes less alpha globin than beta globin because of the gene mutation. (childrensmn.org)
  • Someone who inherits one alpha thalassemia mutation is an alpha thalassemia carrier . (childrensmn.org)
  • Can a polymorphism in the thalassemia gene and a heterozygote CFTR mutation cause acute pancreatitis? (wjgnet.com)
  • Löhr JM, Haas S. Can a polymorphism in the thalassemia gene and a heterozygote CFTR mutation cause acute pancreatitis? (wjgnet.com)
  • What type of mutation causes thalassemia? (healthtap.com)
  • Our conclusion is that ferritin levels are variable in the beta-thalassemia , trait regardless of the type of beta-globin mutation . (bvsalud.org)
  • People who are alpha thalassemia carriers do not have any signs or symptoms. (childrensmn.org)
  • Carriers of alpha thalassemia usually have no signs or symptoms. (stjude.org)
  • No symptoms -Silent carriers of alpha thalassemia generally have no signs or symptoms of the disorder. (stjude.org)
  • People who are carriers of alpha thalassemia or have alpha thalassemia trait usually have mild or no symptoms and need little or no treatment. (stjude.org)
  • In Singapore, about 4.5% of the population are carriers of the thalassaemia gene. (kkh.com.sg)
  • People who are carriers or who have an alpha or beta thalassemia trait have mild or no symptoms. (pediatriconcall.com)
  • If you're expecting a baby and you and your partner are thalassemia carriers, you may want to consider prenatal testing. (hoacny.com)
  • Prenatal control of nondeletional a-thalassemia: first experience in mainland China. (medscape.com)
  • There are two main types, alpha thalassemia and beta thalassemia. (wikipedia.org)
  • Without adequate iron chelation therapy, almost all patients with beta-thalassemia accumulate potentially fatal iron levels. (wikipedia.org)
  • Thousands of infants with beta thalassemia are born each year. (medlineplus.gov)
  • The absence of beta-globin is referred to as beta-zero (β 0 ) thalassemia. (medlineplus.gov)
  • A reduced amount of beta-globin is called beta-plus (β + ) thalassemia. (medlineplus.gov)
  • In these cases, one copy of the altered gene in each cell is sufficient to cause the signs and symptoms of beta thalassemia. (medlineplus.gov)
  • Lucy is the only child, and possibly the only person, with Beta Thalassemia in Medford, Oregon, a city with nearly 80,000 people. (rainbowkids.com)
  • The safety and effectiveness of Zynteglo were established in two multicenter clinical studies that included adult and pediatric patients with beta-thalassemia requiring regular transfusions. (genengnews.com)
  • Thalassemia minor is the least serious of the forms of beta thalassemia. (microscopyu.com)
  • Plasma levels of IL-3 and IL-7 were studied in 23 patients with homozygous beta-thalassemia in order to determine whether these cytokines are involved in abnormalities in erythropoiesis and immune responses as observed in thalassemic patients. (nih.gov)
  • No significant difference was found in plasma IL-7 concentrations between thalassemic patients and healthy controls and it was suggested that IL-7 is not a cytokine involved in cellular immunological alterations in beta-thalassemia. (nih.gov)
  • The beta chain of the hemoglobin molecule is affected, which contributes part of the name of this disease (there is also an a-thalassemia). (itmonline.org)
  • What is Beta Thalassemia? (tutorialspoint.com)
  • The other type is the complete loss of function, which is beta 0 thalassemia. (tutorialspoint.com)
  • Testing of hemoglobin can be done and with severe beta thalassemia the hemoglobin would be low, less than 6 g/dL. (tutorialspoint.com)
  • There would be higher than average fetal hemoglobin and hemoglobin A2 in certain types of beta thalassemia. (tutorialspoint.com)
  • Beta thalassemia is more commonly found in people who are of Southeast Asian, African or Mediterranean descent. (tutorialspoint.com)
  • People who have thalassemias have problems with the alpha or beta globin protein chains of hemoglobin. (hoacny.com)
  • We describe a case of a 25-year-old female with hemoglobin E-beta thalassemia who had a rare presentation of MMS in the form of choreoathetoid movements in the left upper and lower extremities. (jpgmonline.com)
  • The aim of this study was to determine the Haemophilus influenza type b (Hib) antibody concentrations in beta-thalassaemia patients with or without spleens. (scialert.net)
  • ABSTRACT The role of inflammatory cytokines in the pathophysiology of beta-thalassaemia is still unclear. (who.int)
  • There was a significant negative correlation between IL-12 and IL-13 levels among beta-thalassaemia cases (r = -0.42). (who.int)
  • An imbalance in the IL-12/IL-13 axis may be relevant to the pathophysiology of beta-thalassaemia. (who.int)
  • Beta-thalassemia is most common in people of Mediterranean, Middle Eastern, Southeast Asian, or Indian ancestry. (msdmanuals.com)
  • Muncie HL Jr, Campbell J. Alpha and beta thalassemia. (medscape.com)
  • By staying committed to long-term treatment, people with thalassemia can enjoy a full life. (cdc.gov)
  • Because of that, I never struggled with staying on track with my thalassemia treatment. (cdc.gov)
  • Hearing other patients' stories helped her realize that if others were able to get through their situations in managing thalassemia treatment, she could as well. (cdc.gov)
  • Twice a year, they travel to Oakland, California, which has some of the world's leading doctors, technology and treatment for Thalassemia. (rainbowkids.com)
  • Patients with thalassemia minor usually do not require any specific treatment. (medscape.com)
  • Thalassemia patients need more than medical treatment to be able to continue their fight against the disease, Deputy Chairman of the Board of the Emirates Thalassemia Society, Abdulbaset Merdas, said in statements to WAM. (emirates247.com)
  • Treatment of thalassemia depends on the type and severity. (emirates247.com)
  • Since 1980, researchers at the Guang'anmen Hospital of the China Academy of Traditional Chinese Medicine (Beijing) and at the Hematology Institute of the Chinese Academy of Medical Sciences have been investigating treatment of β-thalassemia. (itmonline.org)
  • A stem cell transplant is the only treatment that can cure thalassemia. (pediatriconcall.com)
  • Shortage of medicines required for the treatment of thalassaemia has hit patients hard of late. (thehimalayantimes.com)
  • There are around 600 children who are undergoing treatment for thalassaemia in different hospitals of the country. (thehimalayantimes.com)
  • New Delhi: The Union Health Ministry has initiated a project to provide treatment to 200 children suffering from thalassaemia in the current financial year with Coal India funding it. (indiatimes.com)
  • Mild thalassemia may not require treatment, but severe thalassemia may require bone marrow transplantation. (msdmanuals.com)
  • Individuals with thalassemia syndrome are most often of African, Asian, Mediterranean, or Middle Eastern descent. (medscape.com)
  • Alpha-thalassemia is most common in people with African or Black American, Mediterranean, or Southeast Asian ancestry. (msdmanuals.com)
  • Bone deformities: Thalassemia can make the bone marrow expand, which causes bones to widen. (wikipedia.org)
  • In :Bucker CD, Gale RP, Lucarelli G. Advances and controversies in thalassemia therapy - bone marrow transplantation and other approaches. (pediatriconcall.com)
  • The project will benefit underprivileged thalassaemia patients who have a matched sibling donor and are therefore eligible for bone marrow transplantation but do not have financial resources for the same. (indiatimes.com)
  • Each centre should have performed at least five bone marrow transplants in a year for thalassaemia patients," the official said. (indiatimes.com)
  • Thalassemia is one of the world's most common single-gene disorders. (medscape.com)
  • Alpha thalassaemia in tribal communities of coastal Maharashtra, India. (medscape.com)
  • Heart problems: Diseases, such as congestive heart failure and abnormal heart rhythms, may be associated with severe thalassemia. (wikipedia.org)