Anemia, Hemolytic, Congenital Nonspherocytic: 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. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE.Anemia, Hemolytic: A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).Anemia, Hemolytic, Congenital: Hemolytic anemia due to various intrinsic defects of the erythrocyte.Pyruvate Kinase: ATP:pyruvate 2-O-phosphotransferase. A phosphotransferase that catalyzes reversibly the phosphorylation of pyruvate to phosphoenolpyruvate in the presence of ATP. It has four isozymes (L, R, M1, and M2). Deficiency of the enzyme results in hemolytic anemia. EC 2.7.1.40.Anemia: A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN.Glucosephosphate DehydrogenaseElectrophoresis, Starch Gel: Electrophoresis in which a starch gel (a mixture of amylose and amylopectin) is used as the diffusion medium.Glucosephosphate Dehydrogenase Deficiency: A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia.Anemia, Hemolytic, Autoimmune: Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS.Erythrocytes: Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.Hexokinase: An enzyme that catalyzes the conversion of ATP and a D-hexose to ADP and a D-hexose 6-phosphate. D-Glucose, D-mannose, D-fructose, sorbitol, and D-glucosamine can act as acceptors; ITP and dATP can act as donors. The liver isoenzyme has sometimes been called glucokinase. (From Enzyme Nomenclature, 1992) EC 2.7.1.1.Spherocytosis, Hereditary: A group of familial congenital hemolytic anemias characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions.Hemoglobins, Abnormal: 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.Glucose-6-Phosphate Isomerase: An aldose-ketose isomerase that catalyzes the reversible interconversion of glucose 6-phosphate and fructose 6-phosphate. In prokaryotic and eukaryotic organisms it plays an essential role in glycolytic and gluconeogenic pathways. In mammalian systems the enzyme is found in the cytoplasm and as a secreted protein. This secreted form of glucose-6-phosphate isomerase has been referred to as autocrine motility factor or neuroleukin, and acts as a cytokine which binds to the AUTOCRINE MOTILITY FACTOR RECEPTOR. Deficiency of the enzyme in humans is an autosomal recessive trait, which results in CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA.Search Engine: Software used to locate data or information stored in machine-readable form locally or at a distance such as an INTERNET site.Glyceraldehyde-3-Phosphate Dehydrogenases: Enzymes that catalyze the dehydrogenation of GLYCERALDEHYDE 3-PHOSPHATE. Several types of glyceraldehyde-3-phosphate-dehydrogenase exist including phosphorylating and non-phosphorylating varieties and ones that transfer hydrogen to NADP and ones that transfer hydrogen to NAD.Databases, Genetic: Databases devoted to knowledge about specific genes and gene products.Parkinson Disease: A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.Elliptocytosis, Hereditary: An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape.International Classification of Diseases: A system of categories to which morbid entries are assigned according to established criteria. Included is the entire range of conditions in a manageable number of categories, grouped to facilitate mortality reporting. It is produced by the World Health Organization (From ICD-10, p1). The Clinical Modifications, produced by the UNITED STATES DEPT. OF HEALTH AND HUMAN SERVICES, are larger extensions used for morbidity and general epidemiological purposes, primarily in the U.S.Spectrin: A high molecular weight (220-250 kDa) water-soluble protein which can be extracted from erythrocyte ghosts in low ionic strength buffers. The protein contains no lipids or carbohydrates, is the predominant species of peripheral erythrocyte membrane proteins, and exists as a fibrous coating on the inner, cytoplasmic surface of the membrane.Databases, Factual: Extensive collections, reputedly complete, of facts and data garnered from material of a specialized subject area and made available for analysis and application. The collection can be automated by various contemporary methods for retrieval. The concept should be differentiated from DATABASES, BIBLIOGRAPHIC which is restricted to collections of bibliographic references.Clinical Coding: Process of substituting a symbol or code for a term such as a diagnosis or procedure. (from Slee's Health Care Terms, 3d ed.)Nucleotidases: A class of enzymes that catalyze the conversion of a nucleotide and water to a nucleoside and orthophosphate. EC 3.1.3.-.Leukemia, Basophilic, Acute: A rare acute myeloid leukemia in which the primary differentiation is to BASOPHILS. It is characterized by an extreme increase of immature basophilic granulated cells in the bone marrow and blood. Mature basophils are usually sparse.alpha-Thalassemia: 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.Osmotic Fragility: 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.Spherocytes: Small, abnormal spherical red blood cells with more than the normal amount of hemoglobin.Dictionaries, MedicalDog Diseases: Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used.Surgery, Computer-Assisted: Surgical procedures conducted with the aid of computers. This is most frequently used in orthopedic and laparoscopic surgery for implant placement and instrument guidance. Image-guided surgery interactively combines prior CT scans or MRI images with real-time video.Gene Expression Profiling: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.Physicians: Individuals licensed to practice medicine.Colicins: Bacteriocins elaborated by strains of Escherichia coli and related species. They are proteins or protein-lipopolysaccharide complexes lethal to other strains of the same species.Hypertension: Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.Hypertension, Pulmonary: Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES.Spinal Cord Stimulation: Application of electric current to the spine for treatment of a variety of conditions involving innervation from the spinal cord.Coombs Test: A test to detect non-agglutinating ANTIBODIES against ERYTHROCYTES by use of anti-antibodies (the Coombs' reagent.) The direct test is applied to freshly drawn blood to detect antibody bound to circulating red cells. The indirect test is applied to serum to detect the presence of antibodies that can bind to red blood cells.Hemolysis: The destruction of ERYTHROCYTES by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity.Anion Exchange Protein 1, Erythrocyte: A major integral transmembrane protein of the ERYTHROCYTE MEMBRANE. It is the anion exchanger responsible for electroneutral transporting in CHLORIDE IONS in exchange of BICARBONATE IONS allowing CO2 uptake and transport from tissues to lungs by the red blood cells. Genetic mutations that result in a loss of the protein function have been associated with type 4 HEREDITARY SPHEROCYTOSIS.Antibodies: Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the ANTIGEN (or a very similar shape) that induced their synthesis in cells of the lymphoid series (especially PLASMA CELLS).Adenylate Kinase: An enzyme that catalyzes the phosphorylation of AMP to ADP in the presence of ATP or inorganic triphosphate. EC 2.7.4.3.Antibody Specificity: The property of antibodies which enables them to react with some ANTIGENIC DETERMINANTS and not with others. Specificity is dependent on chemical composition, physical forces, and molecular structure at the binding site.Rabbits: The species Oryctolagus cuniculus, in the family Leporidae, order LAGOMORPHA. Rabbits are born in burrows, furless, and with eyes and ears closed. In contrast with HARES, rabbits have 22 chromosome pairs.Antibodies, Monoclonal: Antibodies produced by a single clone of cells.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Dictionaries as Topic: Lists of words, usually in alphabetical order, giving information about form, pronunciation, etymology, grammar, and meaning.Dictionaries, ChemicalAnemia, Aplastic: A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements.Terminology as Topic: The terms, expressions, designations, or symbols used in a particular science, discipline, or specialized subject area.

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)

Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the bodys tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Specifically, pyruvate kinase deficiency is a common cause of a type of inherited hemolytic anemia called hereditary nonspherocytic hemolytic anemia. In hereditary nonspherocytic hemolytic anemia, the red blood cells do not assume a spherical shape as they do in some other forms of hemolytic anemia.. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the blood, and small pebble-like deposits in the gallbladder or bile ducts (gallstones) are also common in this ...
Looking for online definition of familial nonspherocytic anemia of Basenji dogs in the Medical Dictionary? familial nonspherocytic anemia of Basenji dogs explanation free. What is familial nonspherocytic anemia of Basenji dogs? Meaning of familial nonspherocytic anemia of Basenji dogs medical term. What does familial nonspherocytic anemia of Basenji dogs mean?
The non-spherocytic hemolytic anemias comprise a seemingly diverse group of diseases intrinsic to the red cell when they are contrasted with the better known congenital hemolytic anemias, such as hereditary spherocytosis. Knowledge of their inheritance, course, and pathogenesis is incomplete. Since initially defined by Dacie (1) in 1953 as "atypical congenital hemolytic anemia the general characteristics of this syndrome have been outlined (2, 3): [1] although hereditary, the anemia affects siblings rather than parents within a family; [2] the erythrocytes tend to be macrocytic, and spherocytes are absent; [3] the osmotic fragility of fresh native blood is not increased; [4] ...
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Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]: A disease characterized by G6PD deficiency, acute hemolytic anemia, fatigue, back pain, and jaundice. In most patients, the disease is triggered by an exogenous agent, such as some drugs, food, or infection. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. Although G6PD deficiency can be life-threatening, most patients are asymptomatic throughout their life. {ECO:0000269,PubMed:12524354, ECO:0000269,PubMed:1303180, ECO:0000269,PubMed:1303182, ECO:0000269,PubMed:1536798, ECO:0000269,PubMed:1611091, ECO:0000269,PubMed:1889820, ECO:0000269,PubMed:1945893, ECO:0000269,PubMed:20007901, ECO:0000269,PubMed:26479991, ECO:0000269,PubMed:2836867, ECO:0000269,PubMed:2912069, ECO:0000269,PubMed:30988594, ECO:0000269,PubMed:7858267, ECO:0000269,PubMed:7959695, ECO:0000269,PubMed:8193373, ECO:0000269,PubMed:8490627, ECO:0000269,PubMed:8533762, ECO:0000269,PubMed:8733135, ...
PubMed comprises more than 27 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
Glucose phosphate isomerase (GPI) deficiency with severe haemolysis and hydrops fetalis was found in the first child of unrelated, healthy Caucasian parents. The child died at 3 hours. Both parents were found to have 50% of normal red cell GPI activity and qualitative tests on their red cells and white cells showed that each was heterozygous for a different GPI variant allele associated with enzyme deficiency. Tests on the placenta showed that the propositus was a compound heterozygote. Examination of amniotic cells obtained by amniocentesis on the mother at 28 weeks in her second pregnancy led to the prenatal diagnosis of GPI deficiency. This second child, a compound heterozygote at the GPI locus indistinguishable from the first, was successfully treated by immediate exchange transfusion and subsequent blood transfusions.
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. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE.
DNA was isolated from four unrelated glucose phosphate isomerase-deficient patients. Seven new mutations in the coding region were found: 247 C--,T, 671 C--,T, 818 G--,A, 833 C--,T, 1039 C--,T, 1459 C--,T, and 1483 G--,A. Three patients were compound heterozygotes, and one patient was a homozygote of 247 C--,T/247 C--,T. Six mutations were found to involve highly conserved amino acids of glucose phosphate isomerase, suggesting that these residues are crucial for the maintenance of biological activity. Two polymorphic sites were also identified, 489 A--,G and 1356 G--,C, which do not produce a change in the amino acid sequence. ...
HBA_HUMAN] Defects in HBA1 may be a cause of Heinz body anemias (HEIBAN) [MIM:140700]. This is a form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency.[1] Defects in HBA1 are the cause of alpha-thalassemia (A-THAL) [MIM:604131]. The thalassemias are the most common monogenic diseases and occur mostly in Mediterranean and Southeast Asian populations. The hallmark of alpha-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain production can range from none to very nearly normal levels. Deletion of both copies ...
HBA_HUMAN] Defects in HBA1 may be a cause of Heinz body anemias (HEIBAN) [MIM:140700]. This is a form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency.[1] Defects in HBA1 are the cause of alpha-thalassemia (A-THAL) [MIM:604131]. The thalassemias are the most common monogenic diseases and occur mostly in Mediterranean and Southeast Asian populations. The hallmark of alpha-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain production can range from none to very nearly normal levels. Deletion of both copies ...
Evaluation of nonspherocytic hemolytic anemia. Evaluation of neonatal anemia. Evaluation of unusually severe hemoglobin S trait. Evaluation of unusually severe glucose-6-phosphate dehydrogenase deficiency. Investigating families with pyruvate kinase deficiency to determine inheritance pattern and for genetic counseling. ...
Triosephosphate isomerase (TPI) deficiency is an autosomal recessive disorder caused by various mutations in the gene encoding the key glycolytic enzyme TPI. A drastic decrease in TPI activity and an increased level of its substrate, dihydroxyacetone phosphate, have been measured in unpurified cell extracts of affected individuals. These observations allowed concluding that the different mutations in the TPI alleles result in catalytically inactive enzymes. However, despite a high occurrence of TPI null alleles within several human populations, the frequency of this disorder is exceptionally rare. In order to address this apparent discrepancy, we generated a yeast model allowing us to perform comparative in vivo analyses of the enzymatic and functional properties of the different enzyme variants. We discovered that the majority of these variants exhibit no reduced catalytic activity per se. Instead, we observed, the dimerization behavior of TPI is influenced by the particular mutations investigated, and
Urs Giger. Anemia is one of the most common clinical signs and abnormal laboratory test results in companion animals. Although acquired conditions such as infections, immune disorders, intoxications, blood loss and chronic organ failures represent the main causes of anemia, hereditary blood diseases leading to anemia are also important in clinical practice. Several hereditary erythrocyte defects have been reported in cats and a molecular basis of the erythrocyte pyruvate kinase defect has recently been determined.. Pyruvate kinase is a key regulatory enzyme in the metabolism of sugar. Its deficiency leads to a lack of energy production and thus, an instability of erythrocyte blood cells. This will then result in anemia. PK deficient cats typically have intermittent anemia. The age of onset is quite variable and may depend on environmental factors. The youngest affected cat diagnosed with anemia was 6 months of age and the oldest affected cat was 12 years old and was only found based on screening ...
PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
Buy our Recombinant Human Triosephosphate isomerase protein. Ab88134 is a full length protein produced in Saccharomyces cerevisiae and has been validated in…
Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in five transcript variants which encode different isoforms, some of which are tissue-specific. Each isoform has a distinct N-terminus; the remainder of the protein is identical among all the isoforms. A sixth transcript variant has been described, but due to the presence of several stop codons, it is not thought to encode a protein ...
Patients from two families with chronic hemolytic anemia have been studied. The erythrocytes are very fragile and appear microcytic with a great variety of shapes. Clinical evaluation failed to identify traditionally ...
Abstract Background: β-thalassaemia major is one of the chronic hemolytic anemias resulting from defect in β-globin chain. It requires frequent blood transfusio..
Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009 ...
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Mitapivat showed positive safety and efficacy outcomes in patients with pyruvate kinase deficiency who were not regularly receiving red cell transfusions.
There were no significant differences in sex, plasma ferritin level, use of pre-transplant chelation therapy, transfusion burden in the 12 months prior to HSCT, adapted EBMT-score, conditioning regimen, relation to donor, graft type, donor-recipient sex combination, or transplant source.. In conclusion, herein we discuss the first global study on the outcome of all patients known to have undergone HSCT in PKD. Since guidelines for HSCT in PKD are lacking, this report may be a helpful first step toward future protocols. Compared to published survival rates for other forms of hereditary anemias, cohorts that are otherwise comparable in age, time period and transplant hospital, the overall survival rate after HSCT in PKD is relatively low.11-13 The present analysis of all 16 PKD patients known to be transplanted to date showed a three-year overall survival of 65%. Significantly better survival was observed for patients transplanted before the age of ten. A negative effect of age on survival is also ...
Lara had two healthy, big litters of kittens and Bertta one litter of three. They have never been sick in their life. They are both screened negatives for HCM and any other heart conditions, they are big, strong, good mothers, wonderful temperaments, they have multiple titles both in FIFE and TICA. Bertta is full adult whited. They were perfect breeding cats and still are perfect pets. And then came this. About 6 weeks ago I had never heard about PK-def, or didin´t know what it really is. Now I know more than I ever wanted ...
Thats really interesting, thanks for posting. Its especially interesting how it can be mistaken for FIP. I dont know if its just because I come into contact with more Bengal owners over time, but it does seem to me that FIP-like symptoms are being reported more regularly and I have been wondering if they are all FIP or not. Tragically it probably doesnt change the outcome for the poor owner but knowledge is vital for future generations ...
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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 ...
How is R-type pyruvate kinase abbreviated? R-PK stands for R-type pyruvate kinase. R-PK is defined as R-type pyruvate kinase rarely.
Thirteen Cases of Erythrocyte Pyruvate Kinase Deficiency Associated with Hereditary Hemolytic Anemia:-Clinical and Biochemical Studies- (1981 ...
Glucose phosphate broth is used to perform Methyl Red (MR) test and Voges Proskauer (VP) test. Glucose - 5 g/l Dipotassium phosphate - 5 g/l Proteose Peptone - 5 g/l Distilled water - 1000 ml pH - 6.9 Principle: It is used to determine the ability of an organism to produce mixed acids by fermentation of glucose and to overcome the buffering capacity of the medium. Inoculate MacConkeys (Glucose phosphate broth) with pure culture of test organism. Incubate the broth at 35 °C for 48-72 hours. After incubation add 5 drops of Methyl Red directly into the broth, through the sides of the tube. The development of stable red color in the surface of the medium indicates sufficient acid production to lower the pH to 4.4 and constitute a positive test. Since other organism may produce lesser quantities of acid from the test substrate, an intermediate orange color between yellow and red may develop. This does not indicate positive test. Positive and negative controls should be run after preparation of each ...
Hemolytic anemia occurs when the body does not have enough healthy red blood cells (RBCs). This is because the cells are destroyed too early. The body also does not make new RBCs fast enough to replace the ones that are destroyed. There are many types of hemolytic anemia.
Do You Have Warm-reacting-antibody Hemolytic Anemia? Join friendly people sharing true stories in the I Have Warm-reacting-antibody Hemolytic Anemia group. Find support forums, advice and chat with groups who share this life experience. A Warm-reacti...
Hemolytic anemia occurs when the body doesnt have enough healthy red blood cells (RBCs). Read on to learn about the causes, symptoms, diagnosis, and treatment of this condition.
Complete information about Hemolytic Anemia, including signs and symptoms; conditions that suggest it; contributing risk factors; conditions suggested by it.
Suri, JS , Liu, KC , Singh, S , Laxminarayan, SN , Zeng, XL , and Reden, L , "Shape recovery algorithms using level sets in 2-D/3-D medical imagery: A state-of-the-art review ," IEEE TRANSACTIONS ON INFORMATION TECHNOLOGY IN BIOMEDICINE , vol. 6 , pp. 8 -28 , 2002 . (abstract) ...
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A deficiency in the enzyme Pyruvate Kinase impairs the red blood cells ability to metabolize, which in turn may cause anemia and other blood-related issues. Breeds more prone to this deficiency include the Abyssinian, Somali, and domestic shorthair cats. Learn more about the causes and treatment of this condition in cats on PetMD.com.
View details of top hemolytic anemia hospitals in Gurgaon. Get guidance from medical experts to select best hemolytic anemia hospital in Gurgaon
... definition, an anemic condition characterized by the destruction of red blood cells: seen in some drug reactions and in certain infectious and hereditary disorders. See more.
Update on the evidence-base for psychodynamic child psychotherapy. We are delighted to announce that The Journal of Child Psychotherapy has just published, online, an update of ACP member, Nick Midgley and Eilis Kennedys 2011 review of the evidence base for psychodynamic therapy with children and adolescents.. The new paper,"Psychodynamic psychotherapy for children and adolescents: an updated narrative review of the evidence-base", written by Midgley, OKeefe, French and Kennedy, covers 23 new studies published between 2011 and 2016, adding to the growing evidence for the effectiveness of child psychotherapy. The printed version of the paper will be included in an issue of the Journal of Child Psychotherapy later in the year. Members can access the paper in the journal link on our website. For those who arent members who would like to purchase the paper it is available here.. ...
Introduction. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic deficiency of red blood cells in humans, affecting around 400 million people around the world.1 The condition is most prevalent in the Mediterranean and the Middle East areas. The enzyme G6PD is involved in the pentose phosphate pathway which is essential for red cell metabolism. It leads to the generation of NADPH (reduced form of nicotinamide adenine dinucleotide phosphate) which keeps the hemoglobin (Hb) heme iron in the ferrous state.. There are number of variants of this disease with variable deficiency levels and clinical manifestations.1,2 Severe deficiency (,10% activity) manifests as chronic hemolytic anemia. The most common variant in Oman is the Mediterranean variant.2 It is well known that there are number of precipitating factors for hemolysis in this condition, including fava beans and henna. Though many patients in Oman eat fava beans without having any hemolytic consequences, some ...
Davidson, R. G., Nitowsky, H. M., Childs, B.: Demonstrations of two populations of cells in the human heterozygous for glucose-6-phosphate dehydrogenase variants. Proc. Nat. Acad. Sci. USA 50, 481-485 (1963)Google Scholar ...
Although Agios is involved in some relatively early stage work on pyruvate kinase deficiency -- a genetic disorder that affects red blood cells ability to carry oxygen -- its the companys oncology platform thats most exciting. Specifically, Agios work with IDH mutant inhibitors is what has me, and Wall Street, excited. Normal IDH enzymes help to generate energy for cells by breaking down nutrients; however, mutant IDH creates a molecule that fails to mature and tends to proliferate rapidly. Thus, Agios approach of inhibiting this mutant form of IDH (IDH1 and IDH2) is believed to have anti-cancer effects.. Agios work is so exciting it got the attention of Celgene (NASDAQ:CELG) years ago, with Celgene eventually licensing the rights to IDH2 mutant inhibitor AG-221, and IDH1 mutant inhibitor AG-120. At the American Society of Hematologys annual meeting in December, Agios announced that AG-221 generated an evaluable response in 37% of patients with relapsed or refractory acute myeloid ...
What is Hemolytic Anemia ? Hemolytic anemia is a rare blood disorder in which red blood cells are rapidly destroyed. The severity of this type of anemia is dete
As Kristaps Porzingis limped off the court at Madison Square Garden last Tuesday night, he was actually taking the first steps in his recovery from what...
Heritable Hemolytic Anemia/PKD is where the red cells have a genetically controlled defective pyruvate kinase activity. This is not a curable anemia.
Question - Child has hemolytic anemia since birth. Done spenectomy. What could be the reason for low hemoglobin?. Ask a Doctor about Blood transfusion, Ask a Pediatrician
Learn more about Hemolytic Anemia symptoms, diagnosis, and treatments from experts at Boston Childrens, ranked best Childrens Hospital by US News.
Learn more about the causes, symptoms, complications, and treatments for hemolytic anemia, and how to participate in an NHLBI clinical trial.
Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia]". Harefuah. 126 (12): 699-702, 764, 763 ... A study about sickle cell anemia in Arabs article about Birth defects 6Glucose Phisphate isomere deficiency responsible for ... Some of the genetic disorders endemic to the Arab world are: hemoglobinopathy, sickle cell anemia, glucose-6-phosphate ... Some of the diseases are beta-thalassemia mutations, sickle-cell disease, congenital heart-disease, glucose-6-phosphate ...
Typically diagnosed at birth, congenital nonspherocytic hemolytic anemia is characterised by premature destruction of red blood ... Beutler E, Scott S, Bishop A, Margolis F, Mastsumoto F, Kuhl W (1973). "Red Cell Aldolase Deficiency and Hemolytic Anemia: A ... Takasaki Y, Takahashi I, Mukai T, Hori K (1990). "Human Aldolase A of a Hemolytic Anemia Patient with Asp-128→Gly Substitution ... Yao DC, Tolan DR, Murray MF, Harris DJ, Darras BJ, Geva A (2004). "Hemolytic anemia and severe rhabdomyolysis caused by ...
... congenital MeSH C16.320.070.100 --- anemia, hemolytic, congenital nonspherocytic MeSH C16.320.070.150 --- anemia, sickle cell ... anemia, diamond-blackfan MeSH C16.320.077.280 --- fanconi anemia MeSH C16.320.099.037 --- activated protein c resistance MeSH ... congenital MeSH C16.131.621.551 --- klippel-feil syndrome MeSH C16.131.621.585 --- limb deformities, congenital MeSH C16.131. ... congenital MeSH C16.131.621.585.512 --- lower extremity deformities, congenital MeSH C16.131.621.585.600 --- polydactyly MeSH ...
... anemia, dyserythropoietic, congenital MeSH C15.378.071.141.150.100 --- anemia, hemolytic, congenital nonspherocytic MeSH ... hemolytic MeSH C15.378.071.141.125 --- anemia, hemolytic, autoimmune MeSH C15.378.071.141.150 --- anemia, hemolytic, congenital ... anemia, aplastic MeSH C15.378.190.196.080 --- anemia, hypoplastic, congenital MeSH C15.378.190.196.080.090 --- anemia, diamond- ... File "2006 MeSH Trees".) MeSH C15.378.071.085 --- anemia, aplastic MeSH C15.378.071.085.080 --- anemia, hypoplastic, congenital ...
This group is sometimes called congenital nonspherocytic (hemolytic) anemia, which is a term for a congenital hemolytic anemia ... Congenital hemolytic anemia (or hereditary hemolytic anemia) refers to hemolytic anemia which is primarily due to congenital ... medconditions.net > Hemolytic Congenital, Nonspherocytic Anemia Definition Retrieved April 15, 2011 Shah A (November 2004). " ... Basically classified by causative mechanism, types of congenital hemolytic anemia include: Genetic conditions of RBC Membrane ...
Hereditary t Hereditary nodular heterotopia Hereditary non-spherocytic hemolytic anemia Hereditary pancreatitis Hereditary ... congenital Hillig syndrome Hing-Torack-Dowston syndrome Hinson-Pepys disease Hip dislocation Hip dysplasia Beukes type Hip ... Hemoglobin E disease Hemoglobin SC disease Hemoglobinopathy Hemoglobinuria Hemolytic anemia lethal genital anomalies Hemolytic- ... neuropathy type I Hereditary sensory neuropathy type II Hereditary spastic paraplegia Hereditary spherocytic hemolytic anemia ...
It is a congenital disease that most often occurs with hemolytic anemia and manifests with jaundice. Most patients with TPI for ... Merkle S, Pretsch W (1993). "Glucose-6-phosphate isomerase deficiency associated with nonspherocytic hemolytic anemia in the ... and is associated with non-spherocytic haemolytic anaemia of variable severity. This disease is centered on the glucose-6- ... It is characterized by hemolytic anemia and neurodegeneration, and is caused by anaerobic metabolic dysfunction. This ...
GSS Hemolytic anemia due to hexokinase deficiency; 235700; HK1 Hemolytic anemia, nonspherocytic, due to glucose phosphate ... CDAN1 Anemia, dyserythropoietic congenital, type II; 224100; SEC23B Anemia, hemolytic, due to UMPH1 deficiency; 266120; NT5C3 ... SLC40A1 Hemolytic anemia due to adenylate kinase deficiency; 612631; AK1 Hemolytic anemia due to gamma-glutamylcysteine ... Anemia, hemolytic, Rh-null, regulator type; 268150; RHAG Anemia, hypochromic microcytic; 206100; NRAMP2 Anemia, sideroblastic, ...
congenital nonspherocytic hemolytic anaemia, hereditary nonspherocytic hemolytic anaemia, hereditary nonspherocytic hemolytic ... Disease Ontology Term: congenital nonspherocytic hemolytic anemia. DO ID. DOID:2861 Description. None. Synonyms. ... anemia, HNSHA View DO Annotations for yeast and other model organisms at the Alliance of Genome Resources ...
congenital nonspherocytic hemolytic anemia (DOID:2861) Alliance: disease page Synonyms: hereditary nonspherocytic hemolytic ... Human Disease Modeled: congenital nonspherocytic hemolytic anemia. Associated Mouse Gene: Gpi1 Allelic Composition. Genetic ... anemia; HNSHA Alt IDs: OMIM:206300, OMIM:206400, OMIM:300908, OMIM:613470, MESH:D000746, ORDO:712, UMLS_CUI:C0002882 ... Synonyms: hereditary nonspherocytic hemolytic anemia; HNSHA ...
Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there ... Hemolytic, Congenital Nonspherocytic [Disease/Finding], Hemolytic Anemia, Congenital Nonspherocytic, Congenital nonspherocytic ... Metabolic abnormalities of erythrocytes from patients with congenital nonspherocytic hemolytic anemia.. *W. Zinkham, R. Lenhard ... Congenital Nonspherocytic Hemolytic Anemia: Studies on a Family with a Qualitative Defect in Glucose-6-Phosphate Dehydrogenase ...
Congenital Nonspherocytic Hemolytic Anemia & Fever Symptom Checker: Possible causes include Hereditary Spherocytosis. Check the ... The anemia that results is a nonspherocytic hemolytic anemia. See also congenital nonspherocytic hemolytic anemia, favism. [ ... Congenital Nonspherocytic Hemolytic Disease CNS Congenital Nephrotic Syndrome CNSHA Congenital Nonspherocytic Hemolytic Anemia ... Anemia, Hemolytic, Congenital Nonspherocytic Any one of a group of congenital hemolytic anemias in which there is no abnormal ...
Congenital Hemolytic Anemia. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your ... Congenital Nonspherocytic Hemolytic Anemia & Pediatric Disorder Symptom Checker: Possible causes include Hereditary ... Hemolytic Congenital, Nonspherocytic Anemia: Any one of a group of congenital hemolytic anemias in which there is no abnormal ... This group is sometimes called congenital nonspherocytic (hemolytic) anemia, which is a term for a congenital hemolytic anemia ...
Anemia, Hereditary Nonspherocytic Hemolytic. Synonyms of Anemia, Hereditary Nonspherocytic Hemolytic. *Congenital ... warm antibody hemolytic anemia, cold antibody hemolytic anemia, acquired autoimmune hemolytic anemia, pernicious anemia, folic ... Chronic non-spherocytic haemolytic anaemia due to congenital pyrimidine 5′ nucleotidase deficiency: 25 years later. Baillieres ... The symptoms of hereditary nonspherocytic hemolytic anemia may include moderate anemia (which may cause tiredness), recurrent ...
Anemia, Hemolytic, Congenital Nonspherocytic. Anemia, Hemolytic. Pyruvate Metabolism, Inborn Errors. Anemia, Hemolytic, ... History of allergy to sulfonamides if characterized by acute hemolytic anemia, drug induced liver injury, anaphylaxis, rash of ... Congenital. Anemia. Hematologic Diseases. Genetic Diseases, Inborn. Carbohydrate Metabolism, Inborn Errors. Metabolism, Inborn ...
Anemia, Hemolytic, Congenital Nonspherocytic. Pyruvate Metabolism, Inborn Errors. Anemia, Hemolytic, Congenital. Anemia, ... Allergy to sulfonamides if characterized by acute hemolytic anemia, anaphylaxis, rash of erythema multiforme type or Stevens- ... Hemolytic. Anemia. Hematologic Diseases. Genetic Diseases, Inborn. Carbohydrate Metabolism, Inborn Errors. Metabolism, Inborn ... Additional diagnosis of other congenital or acquired blood disorder. *Iron overload sufficiently severe to result in cardiac, ...
... answered by our Genetic and Rare Diseases Information Specialists for Hemolytic anemia lethal congenital nonspherocytic with ... database of medical literature and lists journal articles that discuss Hemolytic anemia lethal congenital nonspherocytic with ... Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities Title Categories:. Blood Diseases ...
Nonspherocytic Hemolytic Anemia, Congenital with low PK Kinetics. General Discussion. Red cell pyruvate kinase deficiency is a ... It is one of a group of diseases known as hereditary nonspherocytic hemolytic anemias. (Nonspherocytic refers to the fact that ... Symptoms of hereditary nonspherocytic hemolytic anemia include moderate anemia, intermittent yellowing of the skin (jaundice) ... Hereditary nonspherocytic hemolytic anemias are thought to be a heterogeneous group of disorders characterized by red blood ...
Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia]". Harefuah. 126 (12): 699-702, 764, 763 ... A study about sickle cell anemia in Arabs article about Birth defects 6Glucose Phisphate isomere deficiency responsible for ... Some of the genetic disorders endemic to the Arab world are: hemoglobinopathy, sickle cell anemia, glucose-6-phosphate ... Some of the diseases are beta-thalassemia mutations, sickle-cell disease, congenital heart-disease, glucose-6-phosphate ...
congenital (spherocytic) (see also Spherocytosis) 282.0. *. nonspherocytic - see Anemia, hemolytic, nonspherocytic, congenital ... Anemia 285.9. *. hemolytic 283.9. *. acquired 283.9. *. with hemoglobinuria NEC 283.2. *. autoimmune (cold type) (idiopathic) ( ... nonspherocytic*. congenital or hereditary NEC 282.3. *. glucose-6-phosphate dehydrogenase deficiency 282.2. ... Home > 2015 ICD-9-CM Diagnosis Codes > Diseases Of The Blood And Blood-Forming Organs 280-289 > Hereditary hemolytic anemias ...
anemia,non spherocytic,congenital,hemolytic anemia,favism Relevant External Links for G6PD. Genetic Association Database (GAD) ... hemolytic anemia due to g6pd deficiency. *anemia, nonspherocytic hemolytic, due to g6pd deficiency ... Pathogenic, Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]. 154,536,002(-). TCATC(A/G)TGGGC. ... other, Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]. 154,535,187(-). TTCAC(A/G)AGTCC. ...
anemia,non spherocytic,congenital,hemolytic anemia,favism Additional Disease Information for G6PD. Genetic Association Database ... Uncertain Significance: Anemia, nonspherocytic hemolytic, due to G6PD deficiency. 154,536,011(-). T/C MISSENSE_VARIANT. ... Uncertain Significance: Anemia, nonspherocytic hemolytic, due to G6PD deficiency. 154,534,145(-). G/C MISSENSE_VARIANT. ... Uncertain Significance: Anemia, nonspherocytic hemolytic, due to G6PD deficiency. 154,532,611(-). G/A MISSENSE_VARIANT. ...
This group is sometimes called congenital nonspherocytic (hemolytic) anemia, which is a term for a congenital hemolytic anemia ... Congenital hemolytic anemia (or hereditary hemolytic anemia) refers to hemolytic anemia which is primarily due to congenital ... medconditions.net > Hemolytic Congenital, Nonspherocytic Anemia Definition Retrieved April 15, 2011 Shah A (November 2004). " ... Basically classified by causative mechanism, types of congenital hemolytic anemia include: Genetic conditions of RBC Membrane ...
Congenital Nonspherocytic Hemolytic Anemia Caused by Krüppel-Like Factor 1 Gene Variants: Another Case Report. ...
congenital (spherocytic) (see also Spherocytosis) 282.0. *. nonspherocytic - see Anemia, hemolytic, nonspherocytic, congenital ... Anemia 285.9. *. elliptocytosis (see also Elliptocytosis) 282.1. *. hemolytic 283.9. *. acquired 283.9. *. with hemoglobinuria ... nonspherocytic*. congenital or hereditary NEC 282.3. *. glucose-6-phosphate dehydrogenase deficiency 282.2. ... Home > 2015 ICD-9-CM Diagnosis Codes > Diseases Of The Blood And Blood-Forming Organs 280-289 > Hereditary hemolytic anemias ...
Chronic non-spherocytic haemolytic anaemia due to congenital pyrimidine 5 nucleotidase deficiency: 25 ... ... Pyrimidine 5-nucleotidase deficiency as the congenital cause of nonspherocytic hemolytic anemia ... In 1972, Valentine et al described, under the name of non-spherocytic haemolytic anaemia, high red cell ATP and ribose ... Abnormalities in erythrocyte nucleotide metabolism are associated with hereditary nonspherocytic hemolytic anemia. Deficiency ...
Hereditary Non-spherocytic Hemolytic Anemia of the Pyruvate-kinase Deficient Type HERBERT S. BOWMAN, M.D., F.A.C.P.; FRANK ... Since initially defined by Dacie (1) in 1953 as "atypical congenital hemolytic anemia the general characteristics of this ... The non-spherocytic hemolytic anemias comprise a seemingly diverse group of diseases intrinsic to the red cell when they are ... BOWMAN HS, PROCOPIO F. Hereditary Non-spherocytic Hemolytic Anemia of the Pyruvate-kinase Deficient Type. Ann Intern Med. 1963; ...
lethal congenital contracture syndrome + Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities ... congenital heart defects, hamartomas of tongue, and polysyndactyly Congenital Hypoplastic Anemia with Multiple Congenital ... multiple congenital anomalies-hypotonia-seizures syndrome + Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual ... congenital central hypoventilation syndrome Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE ...
normocytic anemia normochromic anemia congenital nonspherocytic hemolytic anemia normal red cell osmotic fragility ... MalaCards based summary : Glycogen Storage Disease Xii, also known as aldolase a deficiency, is related to hemolytic anemia, ... OMIM : 53 Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al., ... Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. ( 2825199 ...
... assay are used in the diagnosis and treatment of nonspherocytic congenital hemolytic anemia or drug-induced hemolytic anemia ... The Coombs test is used for the diagnosis of hemolytic disease of the newborn, and autoimmune hemolytic anemia. The test is ... A red blood cell enzyme assay is used to determine the enzyme defects responsible for a patients hereditary hemolytic anemia. ... The measurement of hemoglobin A2 is used in the diagnosis of the thalassemias (hereditary hemolytic anemias characterized by ...
... is the most common glycolytic enzyme deficiency causing congenital nonspherocytic hemolytic anemia with a variable clinical ... Molecular basis of nonspherocytic hemolytic anemia. J Biol Chem. 2002;277(26):23807-23814. ... Other causes of congenital hemolytic anemia (CDA, other glycolytic enzyme disorders, hemoglobinopathies and membranopathies) ... The precise diagnosis of severe congenital hemolytic anemias including glycolytic enzyme deficiencies is often complex because ...
... the most common glycolytic defect causing congenital nonspherocytic hemolytic anemia. Medical history and laboratory and ... CONGENITAL HEMOLYTIC-ANEMIA WITH POTASSIUM LOSS - REPLY NEW ENGLAND JOURNAL OF MEDICINE Glader, B. E., Nathan, D. G., ALBALA, M ... CONGENITAL HEMOLYTIC-ANEMIA ASSOCIATED WITH DEHYDRATED ERYTHROCYTES AND INCREASED POTASSIUM LOSS NEW ENGLAND JOURNAL OF ... Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia. Journal of pediatric ...
... non-spherocytic hemolytic anemia. The diagnosis and management of patients with PKD can be challenging... ... Pyruvate Kinase Deficiency (PKD) is an autosomal recessive enzyme defect of the glycolytic pathway that causes congenital, ...
  • Bare lymphocyte syndrome high in western Arabic block Morocco, type II Limb-girdle muscular dystrophy, type 2C in Libya, Hemolytic-uremic syndrome in Saudia, Ankylosing spondylitis in Egypt &East block, Alpha-thalassemia in all countries minus Egypt Syria Iraq, Cystic Fibrosis in Iraq Saudi Yemen Libya Morocco, Familial Mediterranean Fever fmf in east block and Libya Morocco, beta Thalassemia in all countries, g6dh deficiency all countries. (wikipedia.org)
  • Diamond Blackfan Anemia (DBA) is a congenital bone marrow failure syndrome associated with ribosomal gene mutations that lead to ribosomal insufficiency. (stanford.edu)
  • [ 41 ] and in post-diarrheal hemolytic uremic syndrome. (medscape.com)
  • Hemolytic Anemia includes any of a group of acute or chronic anemias characterized by shortened survival of mature erythrocytes and the inability of bone marrow to compensate for the decreased life span. (diagnose-me.com)
  • Acquired enzymatic activity defects of erythrocyte pyruvate kinase, glucose phosphate isomerase and phosphofructokinase have been studied in patients with acute myeloid leukemias, sideroblastic refractory anemias and unclassified acquired dyserythropoiesis. (meta.org)
  • Infectious Hemolytic Anemia is due to an incompletely compensated decrease in red blood cell survival secondary to infectious agents, including protozoa (e.g. (diagnose-me.com)
  • Iron overload due to multiple transfusions for chronic anemia (eg, thalassemia or sickle cell disorder) can be treated with chelation therapy. (medscape.com)
  • The adult level of 1 per cent is not reached in some children until puberty Hb F concentration in adults increases in some types of anemia, hemoglobinopathies, and some time in leukemia. (blogspot.com)
  • Here we report on a new mutation in the phosphofructokinase (PFK) gene PFKM identified in a 65-years-old woman who suffered from lifelong intermittent muscle weakness and painful spasms of random occurrence, episodic dark urines, and slight haemolytic anemia. (frontiersin.org)