Anemia, Hemolytic, Congenital Nonspherocytic
Anemia, Hemolytic
Pyruvate Kinase
Glucosephosphate Dehydrogenase
Electrophoresis, Starch Gel
Glucosephosphate Dehydrogenase Deficiency
Anemia, Hemolytic, Autoimmune
Erythrocytes
Hexokinase
Glucose-6-phosphate dehydrogenase aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia. (1/66)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked enzyme abnormality. The clinical phenotype is variable but often predictable from the molecular lesion. Class I variants (the most severe forms of the disease) cluster within exon 10, in a region that, at the protein level, is believed to be involved in dimerization. Here we describe a de novo mutation (C269Y) of a new class I variant (G6PD Aveiro) that maps to exon 8. Mutant and normal alleles were found in both hematopoietic and buccal cells, indicating the presence of mosaicism. The available model of the protein predicts that this lesion lies in proximity to the dimer interface of the molecule. A possible mechanism to explain the severity of the defect is proposed. (Blood. 2000;95:1499-1501) (+info)Cardiac dysfunction because of secondary hemochromatosis caused by congenital non-spherocytic hemolytic anemia. (2/66)
Most patients diagnosed with secondary hemochromatosis have had repeated blood transfusions. Cardiac failure accounts for approximately one-third of the deaths associated with hemochromatosis. Liver dysfunction or hormonal disorders such as diabetes generally precede cardiac failure. A 23-year-old woman with hemochromatosis had, despite significant left ventricular dysfunction, liver function within the normal range on biochemical evaluation. She was treated for congestive heart failure and given desferoxamine intravenously. She did not have primary hemochromatosis, and had not received multiple blood transfusions or iron supplement. As a child the patient had been diagnosed with congenital non-spherocytic hemolytic anemia not requiring transfusion; thus, this is a unique case of secondary hemochromatosis. (+info)Unique phenotypic expression of glucosephosphate isomerase deficiency. (3/66)
Studies of a Mexican kindred present evidence for a unique phenotype of erythrocyte glucosephosphate isomerase, GPI Valle Hermoso. The proband was apparently the homozygous recipient of a mutant autosomal allele governing production of an isozyme characterized by decreased activity, marked thermal instability, normal kinetics and pH optimum, and normal starch gel electrophoretic patterns. Unlike previously known cases, leukocyte and plasma GPI activities were unimpaired. This suggested that the structural alteration primarily induced enzyme instability without drastically curtailing catalytic effectiveness, thereby allowing compensation by cells capable of continued protein synthesis. Age-related losses of GPI, however, were not evident by density-gradient fractionation of affected erythrocytes. (+info)Distinct behavior of mutant triosephosphate isomerase in hemolysate and in isolated form: molecular basis of enzyme deficiency. (4/66)
In a Hungarian family with severe decrease in triosephosphate isomerase (TPI) activity, 2 germ line-identical but phenotypically differing compound heterozygote brothers inherited 2 independent (Phe240Leu and Glu145stop codon) mutations. The kinetic, thermodynamic, and associative properties of the recombinant human wild-type and Phe240Leu mutant enzymes were compared with those of TPIs in normal and deficient erythrocyte hemolysates. The specific activity of the recombinant mutant enzyme relative to the wild type was much higher (30%) than expected from the activity (3%) measured in hemolysates. Enhanced attachment of mutant TPI to erythrocyte inside-out vesicles and to microtubules of brain cells was found when the binding was measured with TPIs in hemolysate. In contrast, there was no difference between the binding of the recombinant wild-type and Phe240Leu mutant enzymes. These findings suggest that the missense mutation by itself is not enough to explain the low catalytic activity and "stickiness" of mutant TPI observed in hemolysate. The activity of the mutant TPI is further reduced by its attachment to inside-out vesicles or microtubules. Comparative studies of the hemolysate from a British patient with Glu104Asp homozygosity and with the platelet lysates from the Hungarian family suggest that the microcompartmentation of TPI is not unique for the hemolysates from the Hungarian TPI-deficient brothers. The possible role of cellular components, other than the mutant enzymes, in the distinct behavior of TPI in isolated form versus in hemolysates from the compound heterozygotes and the simple heterozygote family members is discussed. (+info)Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causing nonspherocytic hemolytic anemia. (5/66)
Human erythrocyte pyruvate kinase plays an important role in erythrocyte metabolism. Mutation on the gene results in pyruvate kinase deficiency and is an important cause of hereditary nonspherocytic hemolytic anemia. Because of difficulties in isolating the mutant enzymes from patients, these mutations have not been fully studied. In this study, a complementary DNA (cDNA) encoding the human erythrocyte pyruvate kinase was generated. The cDNA was cloned into several expression vectors, and the protein was expressed and purified. The tetrameric protein exhibited properties characteristic of authentic human erythrocyte pyruvate kinase, including response to substrate, phosphoenolpyruvate, activation by fructose 1,6-bisphosphate, and inhibition by adenosine triphosphate (ATP). The N-terminal segment of the protein was highly susceptible to proteolysis, but only 2 of the 4 subunits were cleaved and lacked 47 N-terminal amino acid residues. A mutant protein, R510Q, which is the most frequently occurring mutation among Northern European population, was also generated and purified. The mutant protein retained its binding capacity to and could be activated by fructose 1,6-bisphosphate and showed similar kinetics toward phosphoenolpyruvate and adenosine diphosphate as for the wild-type enzyme. Conversely, the mutant protein has a dramatically decreased stability toward heat and is more susceptible to ATP inhibition. The enzyme instability decreases the enzyme level in the cell, accounting for the clinically observed "pyruvate kinase deficiency" of patients who are homozygous for this mutation. This study provides the first detailed functional characterization of human erythrocyte pyruvate kinase. These findings will allow the establishment of a fine correlation between molecular abnormalities and the clinical expression of the disease. (+info)Acid production in glycolysis-impaired tumors provides new insights into tumor metabolism. (6/66)
PURPOSE: Low extracellular pH is a hallmark of solid tumors. It has long been thought that this acidity is mainly attributable to the production of lactic acid. In this study, we tested the hypothesis that lactate is not the only source of acidification in solid tumors and explored the potential mechanisms underlying these often-observed high rates of acid production. EXPERIMENTAL DESIGN: We compared the metabolic profiles of glycolysis-impaired (phosphoglucose isomerase-deficient) and parental cells in both in vitro and two in vivo models (dorsal skinfold chamber and Gullino chamber). RESULTS: We demonstrated that CO(2), in addition to lactic acid, was a significant source of acidity in tumors. We also found evidence supporting the hypothesis that tumor cells rely on glutaminolysis for energy production and that the pentose phosphate pathway is highly active within tumor cells. Our results also suggest that the tricarboxylic acid cycle is saturable and that different metabolic pathways are activated to provide for energy production and biosynthesis. CONCLUSIONS: These results are consistent with the paradigm that tumor metabolism is determined mainly by substrate availability and not by the metabolic demand of tumor cells per se. In particular, it appears that the local glucose and oxygen availabilities each independently affect tumor acidity. These findings have significant implications for cancer treatment. (+info)Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia. (7/66)
Deficiency of human erythrocyte isozyme (RPK) is, together with glucose-6-phosphate dehydrogenase deficiency, the most common cause of the nonspherocytic hemolytic anemia. To provide a molecular framework to the disease, we have solved the 2.7 A resolution crystal structure of human RPK in complex with fructose 1,6-bisphosphate, the allosteric activator, and phosphoglycolate, a substrate analogue, and we have functionally and structurally characterized eight mutants (G332S, G364D, T384M, D390N, R479H, R486W, R504L, and R532W) found in RPK-deficient patients. The mutations target distinct regions of RPK structure, including domain interfaces and catalytic and allosteric sites. The mutations affect to a different extent thermostability, catalytic efficiency, and regulatory properties. These studies are the first to correlate the clinical symptoms with the molecular properties of the mutant enzymes. Mutations greatly impairing thermostability and/or activity are associated with severe anemia. Some mutant proteins exhibit moderate changes in the kinetic parameters, which are sufficient to cause mild to severe anemia, underlining the crucial role of RPK for erythrocyte metabolism. Prediction of the effects of mutations is difficult because there is no relation between the nature and location of the replaced amino acid and the type of molecular perturbation. Characterization of mutant proteins may serve as a valuable tool to assist with diagnosis and genetic counseling. (+info)Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections. (8/66)
In this study the blood cells of 4 male patients from 2 unrelated families with chronic nonspherocytic anemia and recurrent bacterial infections were investigated. The activity of glucose-6- phosphate dehydrogenase (G6PD) in the red blood cells and in the granulocytes of these patients was below detection level. Moreover, their granulocytes displayed a decreased respiratory burst upon activation. Sequencing of genomic DNA revealed a novel 3-base pair (TCT) deletion in the G6PD gene, predicting the deletion of a leucine at position 61. The mutant G6PD protein was undetectable by Western blotting in the red blood cells and granulocytes of these patients. In phytohemagglutinin-stimulated lymphocytes the G6PD protein was present, but the amount of G6PD protein was strongly diminished in the patients' cells. Purified mutant protein from an Escherichia coli expression system showed decreased heat stability and decreased specific activity. Furthermore, we found that the messenger RNA of G6PD(180-182delTCT) is unstable, which may contribute to the severe G6PD deficiency observed in these patients. We propose the name "G6PD Amsterdam" for this new variant. (+info)Hemolytic anemia, congenital nonspherocytic is a rare type of inherited anemia characterized by the premature destruction (hemolysis) of red blood cells. This condition is caused by defects in enzymes or proteins that help maintain the structural integrity and function of red blood cells.
In this form of hemolytic anemia, the red blood cells are not spherical in shape like spherocytes; instead, they may be oval or elongated. The most common types of congenital nonspherocytic hemolytic anemia are caused by deficiencies in enzymes such as glucose-6-phosphate dehydrogenase (G6PD) and pyruvate kinase.
Symptoms of this condition may include fatigue, weakness, pale skin, jaundice, dark urine, and an enlarged spleen. Treatment may involve blood transfusions, medications to manage symptoms, and avoidance of certain triggers that can exacerbate the hemolysis. In some cases, a bone marrow transplant may be considered as a curative treatment option.
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.
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.
Pyruvate kinase is an enzyme that plays a crucial role in the final step of glycolysis, a process by which glucose is broken down to produce energy in the form of ATP (adenosine triphosphate). Specifically, pyruvate kinase catalyzes the transfer of a phosphate group from phosphoenolpyruvate (PEP) to adenosine diphosphate (ADP), resulting in the formation of pyruvate and ATP.
There are several isoforms of pyruvate kinase found in different tissues, including the liver, muscle, and brain. The type found in red blood cells is known as PK-RBC or PK-M2. Deficiencies in pyruvate kinase can lead to a genetic disorder called pyruvate kinase deficiency, which can result in hemolytic anemia due to the premature destruction of red blood cells.
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.
Glyceraldehyde-3-phosphate dehydrogenase (GAPDH), also known as Glucosephosphate Dehydrogenase, is an enzyme that plays a crucial role in cellular metabolism, particularly in the glycolytic pathway. It catalyzes the conversion of glyceraldehyde 3-phosphate (G3P) to 1,3-bisphosphoglycerate (1,3-BPG), while also converting nicotinamide adenine dinucleotide (NAD+) to its reduced form NADH. This reaction is essential for the production of energy in the form of adenosine triphosphate (ATP) during cellular respiration. GAPDH has been widely used as a housekeeping gene in molecular biology research due to its consistent expression across various tissues and cells, although recent studies have shown that its expression can vary under certain conditions.
Electrophoresis, starch gel is a type of electrophoretic technique used in laboratory settings for the separation and analysis of large biomolecules such as DNA, RNA, and proteins. In this method, a gel made from cooked starch is used as the supporting matrix for the molecules being separated.
The sample containing the mixture of biomolecules is loaded onto the gel and an electric field is applied, causing the negatively charged molecules to migrate towards the positive electrode. The starch gel acts as a molecular sieve, with smaller molecules moving more quickly through the gel than larger ones. This results in the separation of the mixture into individual components based on their size and charge.
Once the separation is complete, the gel can be stained to visualize the separated bands. Different staining techniques are used depending on the type of biomolecule being analyzed. For example, proteins can be stained with dyes such as Coomassie Brilliant Blue or silver nitrate, while nucleic acids can be stained with dyes such as ethidium bromide.
Starch gel electrophoresis is a relatively simple and inexpensive technique that has been widely used in molecular biology research and diagnostic applications. However, it has largely been replaced by other electrophoretic techniques, such as polyacrylamide gel electrophoresis (PAGE), which offer higher resolution and can be automated for high-throughput analysis.
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is a genetic disorder that affects the normal functioning of an enzyme called G6PD. This enzyme is found in red blood cells and plays a crucial role in protecting them from damage.
In people with G6PD deficiency, the enzyme's activity is reduced or absent, making their red blood cells more susceptible to damage and destruction, particularly when they are exposed to certain triggers such as certain medications, infections, or foods. This can lead to a condition called hemolysis, where the red blood cells break down prematurely, leading to anemia, jaundice, and in severe cases, kidney failure.
G6PD deficiency is typically inherited from one's parents in an X-linked recessive pattern, meaning that males are more likely to be affected than females. While there is no cure for G6PD deficiency, avoiding triggers and managing symptoms can help prevent complications.
Hemolytic anemia, autoimmune is a type of anemia characterized by the premature destruction of red blood cells (RBCs) in which the immune system mistakenly attacks and destroys its own RBCs. This occurs when the body produces autoantibodies that bind to the surface of RBCs, leading to their rupture (hemolysis). The symptoms may include fatigue, weakness, shortness of breath, and dark colored urine. The diagnosis is made through blood tests that measure the number and size of RBCs, reticulocyte count, and the presence of autoantibodies. Treatment typically involves suppressing the immune system with medications such as corticosteroids or immunosuppressive drugs, and sometimes removal of the spleen (splenectomy) may be necessary.
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.
Hexokinase is an enzyme that plays a crucial role in the initial step of glucose metabolism, which is the phosphorylation of glucose to form glucose-6-phosphate. This reaction is the first step in most glucose catabolic pathways, including glycolysis, pentose phosphate pathway, and glycogen synthesis.
Hexokinase has a high affinity for glucose, meaning it can bind and phosphorylate glucose even at low concentrations. This property makes hexokinase an important regulator of glucose metabolism in cells. There are four isoforms of hexokinase (I-IV) found in different tissues, with hexokinase IV (also known as glucokinase) being primarily expressed in the liver and pancreas.
In summary, hexokinase is a vital enzyme involved in glucose metabolism, catalyzing the conversion of glucose to glucose-6-phosphate, and playing a crucial role in regulating cellular energy homeostasis.
Genetic history of the Arab world
Congenital hemolytic anemia
Aldolase A deficiency
HK1
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Isomerase
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Genetic history of the Arab world - Wikipedia
Recommendations regarding splenectomy in hereditary hemolytic anemias
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Congenital hemolytic anemia
D64.9 - Anemia, unspecified - ICD List 2023
Hereditary nonspherocytic hemolytic anemia caused by glucose-6-phosphate isomerase (GPI) deficiency in a Chinese patient: a...
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Spherocytosis7
- 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)
- This group is sometimes called congenital nonspherocytic (hemolytic) anemia , which is a term for a congenital hemolytic anemia without spherocytosis, and usually excluding hemoglobin abdormalities as well, but rather encompassing defects of glycolysis in the erythrocyte. (en-academic.com)
- hemolytic anemia that is present from birth and in which the lifespan of red blood cells is diminished, such as occurs in hereditary spherocytosis. (en-academic.com)
- Congenital hemolytic jaundice - Known also as hereditary spherocytosis (HS), this is a genetic disorder of the red blood cell membrane clinically characterized by anemia, jaundice (yellowing) and splenomegaly (enlargement of the spleen). (en-academic.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)
- 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)
Deficiency10
- Some of the genetic disorders endemic to the Arab world are: hemoglobinopathy, sickle cell anemia, glucose-6-phosphate dehydrogenase deficiency, and fragile X syndrome (FXS), which is an inherited genetic condition with critical consequences. (wikipedia.org)
- A study about sickle cell anemia in Arabs article about Birth defects Glucose phosphate isomerase deficiency responsible for unexpected hemolytic episodes. (wikipedia.org)
- hypochromic anemia may be caused by iron deficiency from a low iron intake, diminished iron absorption, or excessive iron loss. (icdlist.com)
- Altogether, ATP11C deficiency is the likely cause of hemolytic anemia in our patient, thereby underlining the physiological role and relevance of this flippase in human RBCs. (bvsalud.org)
- Glucose phosphate isomerase (GPI) deficiency is a rare autosomal recessive disorder that causes hereditary nonspherocytic hemolytic anemia (HNSHA). (biomedcentral.com)
- Glucose-6-phosphate isomerase (GPI) deficiency (MIM 613470), one of hereditary nonspherocytic hemolytic anemias (HNSHA), is a rare autosomal recessive hereditary disease caused by homozygous or compound heterozygous mutations of GPI gene on chromosome 19q13 [ 1 ]. (biomedcentral.com)
- MCV, as well as MCH and MCHC, reflect average values and may not adequately reflect RBC changes where mixed RBC populations are present, such as dimorphic RBC populations in sideroblastic anemia or combined iron deficiency anemia (decreased MCV and MCH) and megaloblastic anemia (increased MCV). (medscape.com)
- Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al. (nih.gov)
- Red cell pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. (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)
Syndrome2
- Specific rare autosomal recessive diseases are high in Arabic countries like Bardet Biedl syndrome, Meckel syndrome, congenital chloride diarrhea, severe childhood autosomal recessive muscular dystrophy (SMARMD) lysosomal storage diseases and PKU are high in the Gulf states. (wikipedia.org)
- Hb Bart syndrome is a severe form of anemia secondary to alpha thalassemia. (ghcgenetics.com)
Hemolysis1
- Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. (nih.gov)
Syndromes1
- 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)
Thalassemia1
- Is not recommended for patients suspected to have anemia due to alpha-thalassemia (HBA1 or HBA2). (ghcgenetics.com)
Intrinsic Factor1
- See also pernicious anemia due to defect in the receptor for vitamin B12/intrinsic factor (261100). (nih.gov)
Hypoplastic1
- a rare congenital hypoplastic anemia that usually presents early in infancy. (icdlist.com)
Genetic1
- Dr Thurman' guidebook about Rare genetic diseases Another book Arabic genetic disorders layman guide Saudi Journal article about genetic diseases in Arabic countries The highest proportion of genetic disorders manifestations are: congenital malformations followed by endocrine metabolic disorders and then by neuron disorders (such as Neuromotor disease)and then by blood immune disorders and then neoplasms. (wikipedia.org)
Hemoglobin6
- a condition of inadequate circulating red blood cells (anemia) or insufficient hemoglobin due to premature destruction of red blood cells (erythrocytes). (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)
- He suffered from moderate hemolytic anemia (hemoglobin levels ranging from 62 to 91 g/L) associated with macrocytosis, reticulocytosis, neutropenia, and hyperbilirubinemia. (biomedcentral.com)
- Anemia is defined as a decrease in the amount of red blood cells or hemoglobin in the blood. (ghcgenetics.com)
Defects1
- hemolytic anemia due to various intrinsic defects of the erythrocyte. (icdlist.com)
Splenectomy2
- 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)
- Treatments for chronic hemolytic anemia include blood transfusions, splenectomy, and supportive therapy. (biomedcentral.com)
Destruction3
- [ 2 ] Of note, type of anemia can also be categorized based on bone marrow responses to anemia using reticulocyte count into hypoproliferative anemia (decreased red blood cell production) and hemolytic anemia (increased red blood cell destruction). (medscape.com)
- Conditions to consider in the differential diagnosis of anemia of prematurity (AOP) are those which diminish red cell production, increase red cell destruction, or cause blood loss. (medscape.com)
- The causes of anemia may be classified as impaired red blood cell (RBC) production or increased RBC destruction (hemolytic anemias). (ghcgenetics.com)
Disorder characterized1
- 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)
Disease1
- 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)
Bone1
- a form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. (icdlist.com)
Normocytic1
- sideroblastic anemia can be microcytic anemia, macrocytic anemia, or normochromic and normocytic anemia (due to the presence of dimorphic population of microcytes and macrocytes). (medscape.com)
Acute1
- Acute physiological effects of packed red blood cell transfusion in preterm infants with different degrees of anaemia. (medscape.com)
Severe1
- 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)
Billable1
- D64.9 is a billable ICD-10 code used to specify a medical diagnosis of anemia, unspecified. (icdlist.com)
Blood cells1
- acquired hemolytic anemia due to the presence of autoantibodies which agglutinate or lyse the patient's own red blood cells. (icdlist.com)
Disorders1
- Congenital hemolytic anemia (or hereditary hemolytic anemia ) refers to hemolytic anemia which is primarily due to congenital disorders . (en-academic.com)
Clinical1
- In addition, once the causes of anemia are considered, correlation with clinical findings, including history and physical examination, is important, as is, when necessary, performing more definitive tests to arrive with a definitive diagnosis. (medscape.com)
Birth1
- Yasmeen BH, Chowdhury MA, Hoque MM, Hossain MM, Jahan R, Akhtar S. Effect of short-term recombinant human erythropoietin therapy in the prevention of anemia of prematurity in very low birth weight neonates. (medscape.com)
Type2
- These individuals may be blood sugar 160 in the morning referred to as having a type of congenital nonspherocytic hemolytic anemia. (esaunggul.ac.id)
- Among these parameters, MCV is the most useful value used to classify the type of anemia based on red cell morphology. (medscape.com)
Vitamin1
- Hemolytic anemia was considered, and blood transfusion (once, at 56-day-old) and other treatments, including protein iron succinate oral solution, vitamin C, vitamin B12, and prednisone acetate, were administered at the local hospital. (biomedcentral.com)