Anemia, Dyserythropoietic, Congenital
Erythroblasts
Anemia, Macrocytic
Erythrocytes, Abnormal
Erythropoiesis
Iron Overload
Anion Exchange Protein 1, Erythrocyte
Vesicular Transport Proteins
Pedigree
Erythrocyte Membrane
Anemia, Aplastic
Anemia, Hemolytic
Bone Marrow
Erythroblastic synartesis: an auto-immune dyserythropoiesis. (1/81)
Erythroblastic synartesis is a rare form of acquired dyserythropoiesis, first described by Breton-Gorius et al in 1973. This syndrome is characterized by the presence of septate-like membrane junctions and "glove finger" invaginations between erythroblasts, which are very tightly linked together. This phenomenon, responsible for ineffective erythropoiesis, leads to an isolated severe anemia with reticulocytopenia. In the following report, we describe 3 new cases of erythroblastic synartesis associated with dysimmunity and monoclonal gammapathy. In all cases, the diagnosis was suggested by characteristic morphological appearance of bone marrow smears, and further confirmed by electron microscopy. Ultrastructural examination of abnormal erythroblast clusters showed that these cells were closely approximated with characteristic intercellular membrane junctions. The pathogenesis of the dyserythropoiesis was modeled in vitro using crossed erythroblast cultures and immunoelectron microscopy: when cultured in the presence of autologous serum, the erythroblasts from the patients displayed synartesis, whereas these disappeared when cultured in normal serum. Moreover, synartesis of normal erythroblasts were induced by the patient IgG fraction. Immunogold labeling showed that the monoclonal IgG were detected in, and restricted to, the synartesis. A discrete monoclonal plasmacytosis was also found in the patient bone marrow. The adhesion receptor CD36 appeared to be concentrated in the junctions, suggesting that it might be involved in the synartesis. These experiments indicated that a monoclonal serum immunoglobulin (IgG in the present cases) directed at erythroblast membrane antigen was responsible for the erythroblast abnormalities. Specific therapy of the underlying lymphoproliferation was followed by complete remission of the anemia in these cases. (+info)Geographic distribution of CDA-II: did a founder effect operate in Southern Italy? (2/81)
BACKGROUND AND OBJECTIVE: Congenital dyserythropoietic anemia type II (CDA-II) is an autosomal recessive condition, whose manifestations range from mild to moderate. Its exact prevalence is unknown. Based on a recently established International Registry of CDA-II (64 unrelated kindreds), a high frequency of CDA II families living in South Italy became evident. DESIGN AND METHODS: The aim of this study was to define the haplotypes of the CDA II kindreds living in Southern Italy based on markers D20S884, D20S863, RPN, D20S841 and D20S908. These markers map to 20q11.2, within the interval of the CDAN2 gene that is responsible for CDA II. Next, we looked at these markers in kindreds from other regions of Italy and from other countries, with special attention to families having ancestors in Southern Italy. RESULTS: Evaluation of the geographic distribution of the ancestry of Italian CDA-II patients clearly demonstrated the unusually high incidence of this condition in Southern Italy. Our statistical calculations and linkage disequilibrium data also clearly demonstrate a strong association of the markers of chromosome 20 with the disease locus in our sample. Almost all the regions defined by the markers here used is in disequilibrium with the disease. Combining the data from the Italian sample together with those obtained from the non-Italian ones, we can restrict the area of highest disequilibrium to that defined by markers D20S863-D20S908. INTERPRETATION AND CONCLUSIONS: Despite the presence of this linkage disequilibrium the search for a common haplotype failed. This could suggest that the mutation was very old or that it occurred more than once on different genetic backgrounds. (+info)Congenital dyserythropoietic anemia type III. (3/81)
BACKGROUND AND OBJECTIVES: Congenital dyserythropoietic anemia type III (CDA-III) is a group of very rare disorders characterized by similar bone marrow morphology. The clinical picture is characterized by hemolytic anemia and dramatic bone marrow changes dominated by active erythropoiesis with big multinucleated erythroblasts. The aim of this review is to describe the clinical manifestations, laboratory findings, and management CDA-III. EVIDENCE AND INFORMATION SOURCES: The present review critically examines relevant articles and abstracts published in journals covered by the Science Citation Index and Medline. The authors have performed several studies on CDA-III. STATE OF ART AND PERSPECTIVES: The clinical and laboratory manifestations of CDA-III indicate that the gene responsible for it, which has been mapped to chromosome 15q22, is expressed not only in erythroblasts during mitosis but also in B-cells, and in cells of the retina. Preliminary results indicate genetic and phenotypic similarities between a Swedish and an American family, both with an autosomally dominant inherited form of CDA-III. It is possible that the genetic lesion is identical in these families, but the different phenotypes and modes of inheritance reported among some other cases of CDA-III are probably the results of other genetic lesions. At present, the function of the gene responsible for the Swedish (V sterbotten) variant of CDA-III (CDAN3) is unknown and it is an important goal to characterize and clone this gene in order to study its function. (+info)Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia. (4/81)
Herein is described the case of a young woman presenting with iron overload and macrocytosis. The initial diagnosis was hereditary hemochromatosis. Severe anemia developed after a few phlebotomies, and she was also found to have congenital dyserythropoietic anemia that, though not completely typical, resembled type II. Only genetic testing allowed the definition of the coexistence of the 2 diseases, both responsible for the iron overload. This report points out the need to consider congenital dyserythropoietic anemia in patients with hemochromatosis and unexplained macrocytosis and, conversely, to check for the presence of hereditary hemochromatosis in patients with congenital dyserythropoietic anemia and severe iron overload. To the authors' knowledge, this is the first report of homozygosity for the C282Y mutation of the HFE gene in a patient affected by congenital dyserythropoietic anemia. (+info)Bone marrow transplantation in a case of severe, type II congenital dyserythropoietic anaemia (CDA II). (5/81)
Type II congenital dyserythropoietic anaemia (CDA-II or HEMPAS) is an autosomal recessive disorder, representing the most frequent form of congenital dyserythropoiesis. It is characterised by normocytic anaemia, variable jaundice and hepato-splenomegaly. Gallbladder disease and secondary haemochromatosis are frequent complications. We report a case characterised by severe transfusion-dependent anaemia. The proband inherited CDA-II in association with beta-thalassaemia trait. Splenectomy did not abolish the transfusion dependence and this, in association with poor compliance to iron-chelation therapy, prompted us to consider bone marrow transplantation (BMT) from his HLA-identical sibling. The preparative regimen included busulfan, thiotepa and fludarabine, and graft-versus-host disease prophylaxis consisted of cyclosporin A and short-term methotrexate. Engraftment of donor cells was prompt and the post-transplant course uncomplicated. The patient is alive and transfusion-independent 36 months after allograft. This is the first case of severe CDA-II to undergo BMT. Analysis of this pedigree suggests that interaction with beta-thalassaemia enhanced the clinical severity of CDA-II, making BMT an attractive therapy for patients with transfusion dependence. (+info)Glycophorin A in two patients with congenital dyserythropoietic anemia type I and type II is partly unglycosylated. (6/81)
Glycophorins A from erythrocyte membranes of two patients with congenital dyserythropoietic anemia type I and type II (CDA type I and II) were analyzed for carbohydrate molar composition employing a modification of the recently published method that allowed simultaneous determination of carbohydrates and protein in electrophoretic bands of glycoproteins separated by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (Zdebska & Koscielak, 1999, Anal Biochem., 275, 171-179). The modification involved a preliminary extraction of erythrocyte membranes with aqueous phenol, subsequent electrophoresis and analysis of the extracted glycophorins rather than electrophoresis and analysis of the glycophorin from intact erythrocyte membranes. The results showed a large deficit of N-acetylgalactosamine, galactose, and sialic acid residues in glycophorin A from patients with CDA type I and type II amounting to about 45% and 55%, respectively. The results strongly suggest that glycophorin A in these patients is partly unglycosylated with respect to O-linked glycans. In addition, glycophorin A from erythrocytes of a patient with CDA II but not CDA I exhibited a significant deficit of mannose and N-acetylglucosamine suggesting that its N-glycosylation site was also partly unglycosylated. (+info)Natural history of congenital dyserythropoietic anemia type II. (7/81)
Congenital dyserythropoietic anemia type II (CDA-II) is an autosomal recessive disease characterized by anemia, jaundice, splenomegaly, and erythroblast multinuclearity. The natural history of the disease is unknown. The frequency, the relevance of complications, and the use of splenectomy are poorly defined. This study examined 98 patients from unrelated families enrolled in the International Registry of CDA-II. Retrospective data were obtained using an appropriate questionnaire. The mean age at presentation was 5.2 +/- 6.1 years. Anemia was present in 66% and jaundice in 53.4% of cases. The mean age at correct diagnosis was 15.9 +/- 11.8 years. Twenty-three percent of patients for whom data were available developed anemia during the neonatal period, and 10 of these individuals required transfusions. Splenectomy produced an increased hemoglobin (P <.001) and a reduced bilirubin level (P =.007) in comparison with values before splenectomy. Preliminary data indicate that iron overload occurs irrespective of the hemochromatosis genotype. (Blood. 2001;98:1258-1260) (+info)Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. (8/81)
GATA1 is the X-linked transcriptional activator required for megakaryocyte and erythrocyte differentiation. Missense mutations in the N-terminal zinc finger (Nf) of GATA1 result in abnormal hematopoiesis, as documented in four families: the mutation V205M leads to both severe macrothrombocytopenia and dyserythropoietic anemia, D218G to macrothrombocytopenia and mild dyserythropoiesis without anemia, G208S to macrothrombocytopenia and R216Q to macrothrombocytopenia with beta-thalassemia. The three first GATA1 mutants display a disturbed binding to their essential transcription cofactor FOG1, whereas the fourth mutant shows an abnormal direct DNA binding. In this study, we describe a new family with deep macrothrombocytopenia, marked anemia and early mortality, if untreated, due to a different GATA1 mutation (D218Y) in the same residue 218 also implicated in the above mentioned milder phenotype. Zinc finger interaction studies revealed a stronger loss of affinity of D218Y-GATA1 than of D218G-GATA1 for FOG1 and a disturbed GATA1 self-association. Comparison of the phenotypic characteristics of patients from both families revealed that platelet and erythrocyte morphology as well as expression levels of the platelet GATA1-target gene products were more profoundly disturbed for the hemizygote D218Y mutation. The D218Y allele (as opposed to the D218G allele) was not expressed in the platelets of a female carrier while her leukocytes showed a skewed X-inactivation pattern. We conclude that the nature of the amino acid substitution at position 218 of the Nf of GATA1 is of crucial importance in determining the severity of the phenotype in X-linked macrothrombocytopenia patients and possibly also in inducing skewed X inactivation. (+info)Dyserythropoietic anemia, congenital is a rare type of inherited anemia characterized by ineffective red blood cell production (erythropoiesis) in the bone marrow. This means that the body has difficulty producing healthy and fully mature red blood cells. The condition is caused by mutations in genes responsible for the development and maturation of red blood cells, leading to the production of abnormally shaped and dysfunctional red blood cells.
There are two main types of congenital dyserythropoietic anemia (CDA), type I and type II, each caused by different genetic mutations:
1. CDA Type I (HEMPAS): This form is caused by a mutation in the SEC23B gene. It typically presents in early childhood with mild to moderate anemia, jaundice, and splenomegaly (enlarged spleen). The severity of the condition can vary widely among affected individuals.
2. CDA Type II (HIEM): This form is caused by a mutation in the KIF23 gene or, less commonly, the TCIRG1 gene. It typically presents in infancy with moderate to severe anemia, hepatomegaly (enlarged liver), and splenomegaly. The condition can lead to iron overload due to repeated blood transfusions, which may require chelation therapy to manage.
Both types of congenital dyserythropoietic anemia are characterized by ineffective erythropoiesis, abnormal red blood cell morphology, and increased destruction of red blood cells (hemolysis). Treatment typically involves supportive care, such as blood transfusions to manage anemia, and occasionally chelation therapy to address iron overload. In some cases, bone marrow transplantation may be considered as a curative option.
Hemolytic anemia, congenital is a type of anemia that is present at birth and characterized by the abnormal breakdown (hemolysis) of red blood cells. This can occur due to various genetic defects that affect the structure or function of the red blood cells, making them more susceptible to damage and destruction.
There are several types of congenital hemolytic anemias, including:
1. Congenital spherocytosis: A condition caused by mutations in genes that affect the shape and stability of red blood cells, leading to the formation of abnormally shaped and fragile cells that are prone to hemolysis.
2. G6PD deficiency: A genetic disorder that affects the enzyme glucose-6-phosphate dehydrogenase (G6PD), which is essential for protecting red blood cells from damage. People with this condition have low levels of G6PD, making their red blood cells more susceptible to hemolysis when exposed to certain triggers such as infections or certain medications.
3. Hereditary elliptocytosis: A condition caused by mutations in genes that affect the structure and flexibility of red blood cells, leading to the formation of abnormally shaped and fragile cells that are prone to hemolysis.
4. Pyruvate kinase deficiency: A rare genetic disorder that affects an enzyme called pyruvate kinase, which is essential for the production of energy in red blood cells. People with this condition have low levels of pyruvate kinase, leading to the formation of fragile and abnormally shaped red blood cells that are prone to hemolysis.
Symptoms of congenital hemolytic anemia can vary depending on the severity of the condition but may include fatigue, weakness, pale skin, jaundice, dark urine, and an enlarged spleen. Treatment may involve blood transfusions, medications to manage symptoms, and in some cases, surgery to remove the spleen.
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.
Erythroblasts are immature red blood cells that are produced in the bone marrow. They are also known as normoblasts and are a stage in the development of red blood cells, or erythrocytes. Erythroblasts are larger than mature red blood cells and have a nucleus, which is lost during the maturation process. These cells are responsible for producing hemoglobin, the protein that carries oxygen in the blood. Abnormal increases or decreases in the number of erythroblasts can be indicative of certain medical conditions, such as anemia or leukemia.
Macrocytic anemia is a type of anemia in which the red blood cells are larger than normal in size (macrocytic). This condition can be caused by various factors such as deficiency of vitamin B12 or folate, alcohol abuse, certain medications, bone marrow disorders, and some inherited genetic conditions.
The large red blood cells may not function properly, leading to symptoms such as fatigue, weakness, shortness of breath, pale skin, and a rapid heartbeat. Macrocytic anemia can be diagnosed through a complete blood count (CBC) test, which measures the size and number of red blood cells in the blood.
Treatment for macrocytic anemia depends on the underlying cause. In cases of vitamin B12 or folate deficiency, supplements or dietary changes may be recommended. If the anemia is caused by medication, a different medication may be prescribed. In severe cases, blood transfusions or injections of vitamin B12 may be necessary.
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.
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.
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.
Anion Exchange Protein 1, Erythrocyte (AE1), also known as Band 3 protein or SLC4A1, is a transmembrane protein found in the membranes of red blood cells (erythrocytes). It plays a crucial role in maintaining the pH and bicarbonate levels of the blood by facilitating the exchange of chloride ions (Cl-) with bicarbonate ions (HCO3-) between the red blood cells and the plasma.
The anion exchange protein 1 is composed of three major domains: a cytoplasmic domain, a transmembrane domain, and an extracellular domain. The cytoplasmic domain interacts with various proteins involved in regulating the cytoskeleton of the red blood cell, while the transmembrane domain contains the ion exchange site. The extracellular domain is responsible for the interaction between red blood cells and contributes to their aggregation.
Mutations in the AE1 gene can lead to various inherited disorders, such as hereditary spherocytosis, Southeast Asian ovalocytosis, and distal renal tubular acidosis type 1. These conditions are characterized by abnormal red blood cell shapes, impaired kidney function, or both.
Vesicular transport proteins are specialized proteins that play a crucial role in the intracellular trafficking and transportation of various biomolecules, such as proteins and lipids, within eukaryotic cells. These proteins facilitate the formation, movement, and fusion of membrane-bound vesicles, which are small, spherical structures that carry cargo between different cellular compartments or organelles.
There are several types of vesicular transport proteins involved in this process:
1. Coat Proteins (COPs): These proteins form a coat around the vesicle membrane and help shape it into its spherical form during the budding process. They also participate in selecting and sorting cargo for transportation. Two main types of COPs exist: COPI, which is involved in transport between the Golgi apparatus and the endoplasmic reticulum (ER), and COPII, which mediates transport from the ER to the Golgi apparatus.
2. SNARE Proteins: These proteins are responsible for the specific recognition and docking of vesicles with their target membranes. They form complexes that bring the vesicle and target membranes close together, allowing for fusion and the release of cargo into the target organelle. There are two types of SNARE proteins: v-SNAREs (vesicle SNAREs) and t-SNAREs (target SNAREs), which interact to form a stable complex during membrane fusion.
3. Rab GTPases: These proteins act as molecular switches that regulate the recruitment of coat proteins, motor proteins, and SNAREs during vesicle transport. They cycle between an active GTP-bound state and an inactive GDP-bound state, controlling the various stages of vesicular trafficking, such as budding, transport, tethering, and fusion.
4. Tethering Proteins: These proteins help to bridge the gap between vesicles and their target membranes before SNARE-mediated fusion occurs. They play a role in ensuring specificity during vesicle docking and may also contribute to regulating the timing of membrane fusion events.
5. Soluble N-ethylmaleimide-sensitive factor Attachment Protein Receptors (SNAREs): These proteins are involved in intracellular transport, particularly in the trafficking of vesicles between organelles. They consist of a family of coiled-coil domain-containing proteins that form complexes to mediate membrane fusion events.
Overall, these various classes of proteins work together to ensure the specificity and efficiency of vesicular transport in eukaryotic cells. Dysregulation or mutation of these proteins can lead to various diseases, including neurodegenerative disorders and cancer.
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.
An erythrocyte, also known as a red blood cell, is a type of cell that circulates in the blood and is responsible for transporting oxygen throughout the body. The erythrocyte membrane refers to the thin, flexible barrier that surrounds the erythrocyte and helps to maintain its shape and stability.
The erythrocyte membrane is composed of a lipid bilayer, which contains various proteins and carbohydrates. These components help to regulate the movement of molecules into and out of the erythrocyte, as well as provide structural support and protection for the cell.
The main lipids found in the erythrocyte membrane are phospholipids and cholesterol, which are arranged in a bilayer structure with the hydrophilic (water-loving) heads facing outward and the hydrophobic (water-fearing) tails facing inward. This arrangement helps to maintain the integrity of the membrane and prevent the leakage of cellular components.
The proteins found in the erythrocyte membrane include integral proteins, which span the entire width of the membrane, and peripheral proteins, which are attached to the inner or outer surface of the membrane. These proteins play a variety of roles, such as transporting molecules across the membrane, maintaining the shape of the erythrocyte, and interacting with other cells and proteins in the body.
The carbohydrates found in the erythrocyte membrane are attached to the outer surface of the membrane and help to identify the cell as part of the body's own immune system. They also play a role in cell-cell recognition and adhesion.
Overall, the erythrocyte membrane is a complex and dynamic structure that plays a critical role in maintaining the function and integrity of red blood cells.
Aplastic anemia is a medical condition characterized by pancytopenia (a decrease in all three types of blood cells: red blood cells, white blood cells, and platelets) due to the failure of bone marrow to produce new cells. It is called "aplastic" because the bone marrow becomes hypocellular or "aplastic," meaning it contains few or no blood-forming stem cells.
The condition can be acquired or inherited, with acquired aplastic anemia being more common. Acquired aplastic anemia can result from exposure to toxic chemicals, radiation, drugs, viral infections, or autoimmune disorders. Inherited forms of the disease include Fanconi anemia and dyskeratosis congenita.
Symptoms of aplastic anemia may include fatigue, weakness, shortness of breath, pale skin, easy bruising or bleeding, frequent infections, and fever. Treatment options for aplastic anemia depend on the severity of the condition and its underlying cause. They may include blood transfusions, immunosuppressive therapy, and stem cell transplantation.
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.
Bone marrow is the spongy tissue found inside certain bones in the body, such as the hips, thighs, and vertebrae. It is responsible for producing blood-forming cells, including red blood cells, white blood cells, and platelets. There are two types of bone marrow: red marrow, which is involved in blood cell production, and yellow marrow, which contains fatty tissue.
Red bone marrow contains hematopoietic stem cells, which can differentiate into various types of blood cells. These stem cells continuously divide and mature to produce new blood cells that are released into the circulation. Red blood cells carry oxygen throughout the body, white blood cells help fight infections, and platelets play a crucial role in blood clotting.
Bone marrow also serves as a site for immune cell development and maturation. It contains various types of immune cells, such as lymphocytes, macrophages, and dendritic cells, which help protect the body against infections and diseases.
Abnormalities in bone marrow function can lead to several medical conditions, including anemia, leukopenia, thrombocytopenia, and various types of cancer, such as leukemia and multiple myeloma. Bone marrow aspiration and biopsy are common diagnostic procedures used to evaluate bone marrow health and function.
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.
Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia type IV
Congenital dyserythropoietic anemia type II
Congenital dyserythropoietic anemia type I
Congenital dyserythropoietic anemia type III
Hemolytic jaundice
List of OMIM disorder codes
Dyserythropoiesis
Anisopoikilocytosis
TTBK2
Ham test
Paroxysmal nocturnal hemoglobinuria
ZFP106
UBR1
CCNDBP1
Hemolytic anemia
Coatomer
KLF1
Chronic recurrent multifocal osteomyelitis
GATA1
Majeed syndrome
CDAN1
List of hematologic conditions
Ineffective erythropoiesis
COPII
Congenital hemolytic anemia
List of diseases (C)
Hemolysis
CDA
Megaloblastic anemia
Anemia
Congenital dyserythropoietic anemia - Wikipedia
Congenital dyserythropoietic anemia: MedlinePlus Genetics
Orphanet: Congenital dyserythropoietic anemia
Ham Test: Purpose, Procedure and Results
Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. ...
New cases and mutations in SEC23B gene causing congenital dyserythropoietic anemia type II
Recommendations regarding splenectomy in hereditary hemolytic anemias | Haematologica
Congenital Dyserythropoietic Anemias | Syndromes: Rapid Recognition and Perioperative Implications, 2e | AccessPediatrics |...
Pediatric Acute Anemia: Practice Essentials, Etiology, Epidemiology
SEC23B SEC23 homolog B, COPII coat complex component [Homo sapiens (human)] - Gene - NCBI
Page 1 | Search Results | Acta Haematologica | Karger Publishers
The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I. - MRC Weatherall Institute of...
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I - Centre for...
Frontiers | Exploring Impact of Rare Variation in Systemic Lupus Erythematosus by a Genome Wide Imputation Approach
Global developmental delays - Reece's Rainbow
2014 ICD-9-CM Diagnosis Code 285.8 : Other specified anemias
Cdan1 | Knockout Mouse | Research Models | Taconic Biosciences
Beta-thalassemia - Symptoms, diagnosis and treatment | BMJ Best Practice US
Cancers | Free Full-Text | Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial...
Dr. John Reynolds, MD, Hematology Specialist - Bismarck, ND | Sharecare
CIPSM - 2009
Universitat Internacional de Catalunya
Dermatology | Journal of Medical Genetics
Codanin 1 Antikörper (ABIN889411)
National Coverage Determination: Cytogenetic Studies
Abhd10 Mouse Gene Details | abhydrolase domain containing 10 | International Mouse Phenotyping Consortium
Frequently Asked Questions - NHS Blood and Transplant
Cord Blood Stem Cells
The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper
Erythropoiesis10
- CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. (wikipedia.org)
- Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. (orpha.net)
- Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective erythropoiesis conditions. (uic.es)
- This is a group of inherited disorders characterized by quantitatively and qualitatively altered erythropoiesis resulting in usually mild-to-moderate anemia. (mhmedical.com)
- Congenital dyserythropoietic anaemia type I (CDA-I) is one of a heterogeneous group of inherited anaemias characterised by ineffective erythropoiesis. (ox.ac.uk)
- 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)
- Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. (antikoerper-online.de)
- The dyserythropoiesis of arsenic poisoning mimics that seen in megaloblastic anemia and has morphologic features similar to erythropoiesis in myelodysplastic syndrome. (mhmedical.com)
- Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities. (bvsalud.org)
- These findings will likely improve understanding of disordered erythropoiesis, including thalassemia, myelodysplastic syndrome, and congenital dyserythropoietic anemia, and guide future studies that focus on CDKIs. (biomedcentral.com)
Paroxysmal nocturnal hemo1
- Your doctor may use this test to help diagnose paroxysmal nocturnal hemoglobinuria (PNH) or congenital dyserythropoietic anemia (CDA). (healthline.com)
Thalassemia5
- Doctors often include it in the group of anemias that involve reduced hemoglobin synthesis, or thalassemia. (healthline.com)
- Hereditary hemolytic anemias are a group of disorders with a variety of causes, including red cell membrane defects, red blood cell enzyme disorders, congenital dyserythropoietic anemias, thalassemia syndromes and hemoglobinopathies. (haematologica.org)
- If you have sickle cell disorder, thalassemia or another inherited anaemia, please see our frequently asked questions for patients . (nhsbt.nhs.uk)
- Is not recommended for patients suspected to have anemia due to alpha-thalassemia (HBA1 or HBA2). (ghcgenetics.com)
- Hb Bart syndrome is a severe form of anemia secondary to alpha thalassemia. (ghcgenetics.com)
Syndromes1
- Other forms of genetic anaemias can also be considered while establishing NGS panels, in particular genetic syndromes, where anaemia comprises one of the constellation of symptoms. (b-s-h.org.uk)
Fanconi Anemia1
- The Fanconi Anemia (FA) core complex localizes to chromatin during the S phase and in response to DNA damage. (kupferlab.org)
Nonspherocytic1
- Red cell pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. (nih.gov)
CDAN11
- Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. (ox.ac.uk)
Gene4
- Variant analysis of SEC23B gene in 4 families with congenital dyserythropoietic anemia]. (nih.gov)
- Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II. (nih.gov)
- Researching the genetic basis of anaemia, alpha-globin gene regulation and haemoglobin switching. (ox.ac.uk)
- As part of this work I have identified a novel gene, C15ORF41, underlying a type of anaemia termed Congenital Dyserythropoietic Anaemia type I (CDA-I) (Babbs et al. (ox.ac.uk)
Deficiency8
- Many studies have shown the deleterious effects of iron deficiency anemia or iron deficiency without anemia on the neurocognitive and behavioral development in children. (medscape.com)
- Rare inherited anaemias include Diamond-Blackfan anaemia (DBA), congenital dyserythropoietic anaemias (CDA), congenital sideroblastic anaemias (CSA), and disorders of red cell membrane and enzymes, such as hereditary spherocytosis and pyruvate kinase deficiency (if transfusion dependent). (nhsbt.nhs.uk)
- hypochromic anemia may be caused by iron deficiency from a low iron intake, diminished iron absorption, or excessive iron loss. (icdlist.com)
- D50.1- Sideropenic dysphagia (web-like membranes in the throat making swallowing difficult, caused by iron deficiency anemia). (grantsformedical.com)
- D51.0- Vitamin B12 deficiency anemia due to intrinsic factor (IF) deficiency. (grantsformedical.com)
- D51.3- Other dietary vitamin B12 deficiency anemia. (grantsformedical.com)
- Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al. (nih.gov)
- Congenital pernicious anemia (PA), or intrinsic factor deficiency, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia (170900). (nih.gov)
Hemolytic anemia due2
- acquired hemolytic anemia due to the presence of autoantibodies which agglutinate or lyse the patient's own red blood cells. (icdlist.com)
- hemolytic anemia due to various intrinsic defects of the erythrocyte. (icdlist.com)
Type12
- Congenital dyserythropoietic anemia has four different subtypes, CDA Type I, CDA Type II, CDA Type III, and CDA Type IV. (wikipedia.org)
- CDA type II (CDA II) is the most frequent type of congenital dyserythropoietic anemias. (wikipedia.org)
- Congenital Dyserythropoietic Anemia Type I. Seattle (WA): University of Washington, Seattle. (wikipedia.org)
- CDA type I is characterized by moderate to severe anemia. (medlineplus.gov)
- The anemia associated with CDA type II can range from mild to severe, and most affected individuals have jaundice, hepatosplenomegaly, and the formation of hard deposits in the gallbladder called gallstones. (medlineplus.gov)
- In CDA II, the most frequent type, anemia and/or jaundice is usually detected in children or young adults with splenomegaly. (orpha.net)
- CDA type 1 causes mild anemia. (healthline.com)
- The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I. (ox.ac.uk)
- Congenital dyserythropoietic anemia, type I. Note nuclear bridging in erythroblasts. (mhmedical.com)
- Congenital dyserythropoietic anemia, type I. Note erythroblast with double nucleus. (mhmedical.com)
- ICD 10 code for anemia varies depending on the specific type and cause. (grantsformedical.com)
- Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR). (uams.edu)
Diagnosis7
- The symptoms and signs of congenital dyserythropoietic anemia are consistent with: Tiredness (fatigue) Weakness Pale skin The diagnosis of congenital dyserythropoietic anemia can be done via sequence analysis of the entire coding region, types I, II, III and IV ( is a relatively new form of CDA that had been found, just 4 cases have been reported) according to the genetic testing registry. (wikipedia.org)
- In approximately half of the cases, the diagnosis is made in the neonatal period secondary to significant anemia. (mhmedical.com)
- In the other half, the diagnosis is commonly made later in childhood or adolescence secondary to mild anemia with intermittent jaundice, splenomegaly, and sometimes hepatomegaly. (mhmedical.com)
- D64.9 is a billable ICD-10 code used to specify a medical diagnosis of anemia, unspecified. (icdlist.com)
- Appropriate code for malignancy is sequenced as the principal diagnosis or first-listed Dx, followed by the code for Anemia. (grantsformedical.com)
- Then always code anemia as a principal or first-listed diagnosis, followed by the appropriate code for neoplasm and then the adverse effect. (grantsformedical.com)
- Currently ~60% of patients with congenital anaemia remain without a genetic diagnosis and part of my research utilises next generation sequencing technologies to identify novel causative variants and broaden the diagnostic range for these disorders. (ox.ac.uk)
Disorders4
- The test can help your doctor diagnose certain types of acquired and congenital blood disorders. (healthline.com)
- As no randomized clinical trials, case control or cohort studies regarding splenectomy in these disorders were found in the literature, recommendations for each disease were based on expert opinion and were subsequently critically revised and modified by the Splenectomy in Rare Anemias Study Group, which includes hematologists caring for both adults and children. (haematologica.org)
- 1-6 Excluding disorders of globin synthesis, rare anaemias include Diamond-Blackfan anaemia (DBA), congenital dyserythropoietic anaemias (CDA), congenital sideroblastic anaemias (CSA), and disorders of red cell membrane and enzymes. (b-s-h.org.uk)
- Today, Umbilical Cord Blood (UCB) stem cells are used in the treatment of over 105 ailments in Thailand, including cardiovascular disease, cancer, hereditary/genetic diseases, and blood disorders such as sickle cell anaemia. (stemcellcareindia.com)
Neutropenia1
- the disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (icdlist.com)
Megaloblastic1
- B)Large erythroblasts with nuclear lobulation and with chromatin patterns similar to that seen in megaloblastic anemia. (mhmedical.com)
Aplastic1
- The most common reason for hospitalization because of acute anemia is due to the so-called aplastic crisis in children with chronic hemolytic anemia who otherwise had been stable. (medscape.com)
Erythroblasts2
- a familial disorder characterized by anemia with multinuclear erythroblasts, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (erythroid precursor cells). (icdlist.com)
- This variant of congenital dyserythropoietic anemia has erythroblasts with two to seven nuclei. (mhmedical.com)
Macrocytic anemia1
- CDA I patients have a moderate macrocytic anemia with frequent splenomegaly and occasional hepatomegaly. (orpha.net)
Flow cytometry1
- However, because sufficient specific cell markers are scarce, dyserythropoietic diseases are challenging to identify through flow cytometry. (biomedcentral.com)
Clinical2
- The clinical effects of anemia depend on its duration and severity. (medscape.com)
- more importantly, one must consider the clinical effects or the signs and symptoms of the individual with anemia. (medscape.com)
Symptoms3
- When anemia is acute, the body does not have enough time to make the necessary physiologic adjustments, and the symptoms are more likely to be pronounced and dramatic. (medscape.com)
- In contrast, when anemia develops gradually, the body is able to adjust, using all 4 mechanisms mentioned above (1, 3, and 4 in most cases), ameliorating the symptoms relative to the degree of the anemia. (medscape.com)
- Most of the symptoms of anemia are associated with the lack of oxygen in the body. (grantsformedical.com)
Genetic2
- This landmark ruling opened enormous omline bilities for the commercial growth of genetic en- gineering. (binaryoptionsforex625.com)
- My research focuses on the genetic causes of anaemia, regulation of the alpha globin locus and haemoglobin switching. (ox.ac.uk)
Mild2
Hemoglobin10
- Pediatric anemia refers to a hemoglobin or hematocrit level lower than the age-adjusted reference range for healthy children. (medscape.com)
- Physiologically, anemia is a condition in which reduced hematocrit or hemoglobin levels lead to diminished oxygen-carrying capacity that does not optimally meet the metabolic demands of the body. (medscape.com)
- a condition of inadequate circulating red blood cells (anemia) or insufficient hemoglobin due to premature destruction of red blood cells (erythrocytes). (icdlist.com)
- any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. (icdlist.com)
- 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. (icdlist.com)
- anemia characterized by decreased or absent iron stores, low serum iron concentration, low transferrin saturation, and low hemoglobin concentration or hematocrit value. (icdlist.com)
- anemia characterized by larger than normal erythrocytes, increased mean corpuscular volume (mcv) and increased mean corpuscular hemoglobin (mch). (icdlist.com)
- Anemia is defined as a decrease in the amount of red blood cells or hemoglobin in the blood. (ghcgenetics.com)
- Some authorities also consider a relative anemia to exist when a hemoglobin or hematocrit above that cutoff point is insufficient to meet tissue oxygen demand. (msdmanuals.com)
- Оцінка анемії Anemia is a decrease in the number of red blood cells (RBCs) as measured by the red cell count, the hematocrit, or the red cell hemoglobin content. (msdmanuals.com)
Neonatal period2
- In pediatrics beyond the immediate neonatal period, acute anemia is rare in otherwise healthy children. (medscape.com)
- Physiologic anemia is the most common cause of anemia in the neonatal period. (msdmanuals.com)
Spherocytosis3
- However, except for hereditary spherocytosis for which the effectiveness of splenectomy has been well documented, the efficacy of splenectomy in other anemias within this group has yet to be determined and there are concerns regarding short- and long-term infectious and thrombotic complications. (haematologica.org)
- Hereditary spherocytosis and hereditary elliptocytosis are examples of inherited hemolytic anemias. (ghcgenetics.com)
- Hereditary spherocytosis is the most common congenital hemolytic anemia among Caucasians with an estimated prevalence ranging from 1:2,000 to 1:5,000. (ghcgenetics.com)
Splenomegaly2
- Patients share chronic anemia of variable severity and jaundice, frequently associated with splenomegaly and/or hepatomegaly. (orpha.net)
- Abdominal ultrasonography is used to assess for gallstones or splenomegaly in hemolytic anemia, while computed tomography (CT) scanning is used to evaluate occult bleeding in blunt trauma (eg, splenic rupture, subcapsular hemorrhage of the liver) or a bleeding disorder. (medscape.com)
Disease2
- Anemia is not a specific disease entity but is a condition caused by various underlying pathologic processes. (medscape.com)
- Educate the patient and/or the family about the specific disease that causes the anemia. (medscape.com)
Physiologic3
- Certain physiologic adjustments can occur in an individual with anemia to compensate for the lack of oxygen delivery. (medscape.com)
- Normal physiologic processes often cause normocytic-normochromic anemia at an expected time after birth in term and preterm infants. (msdmanuals.com)
- Physiologic anemias do not generally require extensive evaluation or treatment. (msdmanuals.com)
Intrinsic factor1
- See also pernicious anemia due to defect in the receptor for vitamin B12/intrinsic factor (261100). (nih.gov)
Diseases1
- ANEMIAS: Diseases causing too few blood cells to be made. (upstatecordbloodbank.com)
Severe anemia3
- Acute and severe anemia can result in cardiovascular compromise. (medscape.com)
- Spectrum of severity from asymptomatic to severe anemia and skeletal changes. (bmj.com)
- Alloantibodies in the Kell and Kx blood group system can cause strong reactions to transfusions of incompatible blood and severe anemia in affected male newborns of Kell-negative mothers. (nih.gov)
Jaundice1
- Jaundice is intermittent and approximately 1/3 of patients have congenital malformations, mostly involving the limbs, but also the heart, kidneys or hip. (orpha.net)
Destruction1
- The causes of anemia may be classified as impaired red blood cell (RBC) production or increased RBC destruction (hemolytic anemias). (ghcgenetics.com)
Rare4
- Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. (wikipedia.org)
- Three main types of congenital dyserythropoietic anemia (CDA I-III) and four other extremely rare types have been described. (mhmedical.com)
- a rare congenital hypoplastic anemia that usually presents early in infancy. (icdlist.com)
- We work on another rare blood disorder congenital dyserythropoietic anemia (CDA). (kupferlab.org)