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.
A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).
Hemolytic anemia due to various intrinsic defects of the erythrocyte.
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.
A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN.
Electrophoresis in which a starch gel (a mixture of amylose and amylopectin) is used as the diffusion medium.
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.
Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS.
Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.
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.
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 characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.
An 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.
Software used to locate data or information stored in machine-readable form locally or at a distance such as an INTERNET site.
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 devoted to knowledge about specific genes and gene products.
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)
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.
An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape.
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.
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.
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.
Process of substituting a symbol or code for a term such as a diagnosis or procedure. (from Slee's Health Care Terms, 3d ed.)
A class of enzymes that catalyze the conversion of a nucleotide and water to a nucleoside and orthophosphate. EC 3.1.3.-.
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.
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.
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.
Small, abnormal spherical red blood cells with more than the normal amount of hemoglobin.
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.
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.
The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.
Individuals licensed to practice medicine.
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.
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.
Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES.
Application of electric current to the spine for treatment of a variety of conditions involving innervation from the spinal cord.
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.
The destruction of ERYTHROCYTES by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity.

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] ...
Eukaryotic pyrimidine 5-nucleotidase type 1 (P5N-1) catalyzes dephosphorylation of pyrimidine 5-mononucleotides. Deficiency of P5N-1 activity in red blood cells results in nonspherocytic hemolytic anemia. The enzyme deficiency is either familial or can be acquired through lead poisoning. We presen …
PFK1 : Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia   Evaluation of individuals with exercise intolerance or myopathy   Genetic studies in families with phosphofructokinase deficiency
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James Stewardson Research and Welfare Trust, The - documenting the race against time to save the lives of a small number of children, we are creating public awareness and calling for support. ...
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 ...
Cerecor Inc. said three of its therapies for metabolism-related disorders received orphan-drug designations from the U.S. Food and Drug Administration.. The FDA granted orphan-drug status to CERC-801, D-galactose for treating phosphoglucomutase 1 deficiency; CERC-802, D-mannose to treat mannose phosphate isomerase deficiency; and CERC-803, L-fucose for the treatment of congenital disorder of glycosylation 2c.. Each indication is an ultra-rare congenital disorder of glycosylation - a disease caused by an inherited mutation - affecting fewer than 1,000 individuals in the U.S., the Baltimore-based biopharmaceutical company said. Glycosylation is a process that creates carbohydrates needed for tissues and organs to function.. Cerecor completed pre-investigational new drug application meetings with the U.S. drug agency and seeks to expedite the approval of each product. ...
Abstract. Two cases previously diagnosed as aplastic anemia were found to have abnormal susceptibility of the red blood cells to hemolysis after chilling and af
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.
The Inheritance of PK Deficiency leads to a range of Symptoms and Complications, and Prevalence data may be higher due to missed diagnosis.
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Buy our Recombinant Human Triosephosphate isomerase protein. Ab88134 is a full length protein produced in Saccharomyces cerevisiae and has been validated in…
Recombinant Human Triosephosphate isomerase protein is an Escherichia coli Full length protein 1 to 249 aa range, | 95% purity and validated in SDS-PAGE, MS.
Pyruvate kinase (PK) deficiency is a rare hereditary condition that effects red blood cells. Learn more from Boston Childrens Hospital.
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 ...
SANTANNA, Anadayr L.M. et al. Study of chronic hemolytic anaemia patients in Rio de Janeiro: prevalence of anti-human parvovirus B19 IgG antibodies and the developement aplastic crises. Rev. Inst. Med. trop. S. Paulo, July 2002, vol.44, no.4, p.187-190. ISSN 0036- ...
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 ...
Use Bio-Rads PrimePCR assays, controls, templates for your target gene. Every primer pair is optimized, experimentally validated, and performance guaranteed.
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 ...
To date, very few PKD patients have underwent stem cell transplantation, mainly because of the significant side effects. Its therefore very difficult to draw conclusions on the benefit of this treatment. Dr. Richard Van Wijk, University Medical Center, Utrecht What is a stem cell? A Stem Cell is a primitive, unripe cell within the body…
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 ...
A 15-month-old girl with severe hemolytic anemia and progressive respiratory failure is presented. She was well until the age of six months when she developed a pulmonary infection. During the next six months, she had frequent respiratory infections and her paleness became evident. At the age of 12 months, she was observed to have easy fatigability and muscle weakness, and she received her first blood transfusion. She was referred to our hospital at the age of 15 months. The physical examination revealed a malnourished girl with hypotonia, nystagmus, generalized muscle weakness and severe breathing difficulty requiring ventilatory support The hemoglobin (Hb) was 9.7 g/dl; hematocrit (Hct) 29%, mean corpuscular volume (MCV) 101 fl and reticulocyte count 15%. Peripheral blood smear revealed macrocytosis and stomatocytosis (30% of the red cells) and polychromasia. Sweat chloride test was 90 and 94 mEq/L on two separate occasions. The serum vitamin E level was 0.26 mg/dl (N: 0.44-0.68). She was ...
Current or recent hiatal hernia, esophageal reflux, nausea, vomiting, abdominal pain. Patients who cannot tolerate large fluid shifts and who are on specific fluid requirements. Inflammatory bowel disease. Disorders associated with iron overload (eg, hemosiderosis, chronic hemolytic anemia with frequent blood transfusions, chronic iron replacement). Avoid aspiration. Pregnancy (Cat.B). Nursing mothers. ...
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.
Hemolytic anemia is a type of condition in which there is an abnormally fast break down of red blood cells. Generally speaking...
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) ...
We offer clinical cancer updates, treatment guidance, and research news to the oncology nursing community. Visit us often for drug therapy testing results, patient care information and more. Download our FREE app today.
Presentation Fashion. This course is introduced as a (very massive) collection of dwell demonstrations being carried out in JetBrains CLion. Most demos are single-file, so youll be able to obtain the file connected to the lesson and run it in CLion, XCode or one other IDE of your alternative (or simply on the command line).. This course doesnt use UML class diagrams; all of demos are dwell coding.Who this course is for:. ...
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 MeSH ... 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 ...
... congenital MeSH C15.378.071.141.150.100 - anemia, hemolytic, congenital nonspherocytic MeSH C15.378.071.141.150.150 - anemia, ... anemia, hemolytic, autoimmune MeSH C15.378.071.141.150 - anemia, hemolytic, congenital MeSH C15.378.071.141.150.095 - anemia, ... anemia, diamond-blackfan MeSH C15.378.071.085.080.280 - fanconi anemia MeSH C15.378.071.141 - anemia, hemolytic MeSH C15.378. ... anemia, aplastic MeSH C15.378.190.196.080 - anemia, hypoplastic, congenital MeSH C15.378.190.196.080.090 - anemia, diamond- ...
This group is sometimes called congenital nonspherocytic (hemolytic) anemia, which is a term for a congenital hemolytic anemia ... Congenital hemolytic anemia refers to hemolytic anemia which is primarily due to congenital disorders. Basically classified by ... medconditions.net > Hemolytic Congenital, Nonspherocytic Anemia Definition Archived 2016-09-19 at the Wayback Machine Retrieved ... "Congenital hemolytic anemia in Bangladesh: types and clinical manifestations". Indian Pediatr. 39 (6): 574-7. PMID 12084953. ...
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 ...
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 ...
Thromboembolism has been reported as a complication following splenectomy for various hereditary chronic hemolytic anemias … ... Anemia, Hemolytic, Congenital Nonspherocytic / complications* * Anemia, Hemolytic, Congenital Nonspherocytic / surgery * ... Our patient presented at age 37 with recurrent pulmonary emboli, 36 years after splenectomy for severe hemolytic anemia. Work- ... Thromboembolism has been reported as a complication following splenectomy for various hereditary chronic hemolytic anemias. To ...
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 ...
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. ...
Congenital Nonspherocytic Hemolytic Anemia Caused by Krüppel-Like Factor 1 Gene Variants: Another Case Report. ...
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. *. 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 ...
Phosphofructokinase deficiency associated with congenital nonspherocytic hemolytic anemia and mild myopathy: Biochemical and ...
This group is sometimes called congenital nonspherocytic (hemolytic) anemia, which is a term for a congenital hemolytic anemia ... Congenital hemolytic anemia refers to hemolytic anemia which is primarily due to congenital disorders. Basically classified by ... medconditions.net > Hemolytic Congenital, Nonspherocytic Anemia Definition Archived 2016-09-19 at the Wayback Machine Retrieved ... "Congenital hemolytic anemia in Bangladesh: types and clinical manifestations". Indian Pediatr. 39 (6): 574-7. PMID 12084953. ...
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; ...
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 ...
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 ...
... 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, ...
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? ... familial nonspherocytic anemia of Basenji dogs explanation free ... Looking for online definition of familial nonspherocytic anemia of Basenji dogs in the Medical Dictionary? ... Anemia of prematurity, Aplastic anemia, Arctic anemia, Autoimmune hemolytic anemia, Cloverleaf anemia, Congenital ...
Initially reported in a family with congenital nonspherocytic hemolytic disease, later in additional families and as a sporadic ... to repeated hemolytic crises. Ameliorated after splenectomy. Also reported as a severe fetal anaemia with hydrops fetalis due ...
Complete information about Hemolytic Anemia, including signs and symptoms; conditions that suggest it; contributing risk ... Congenital Nonspherocytic Hemolytic Anemia includes any of a group of inherited anemias characterized by shortened red cell ... Other types include Microangiopathic Hemolytic Anemia, Nonspherocytic Hemolytic Anemia, Toxic Hemolytic Anemia (due to toxic ... Congenital Hemolytic Anemia is a general term for hemolytic anemia that is present from birth and in which the lifespan of red ...
  • Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA). (semanticscholar.org)
  • Abnormalities in erythrocyte nucleotide metabolism are associated with hereditary nonspherocytic hemolytic anemia. (biomedsearch.com)
  • 53 Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al. (malacards.org)
  • A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia. (abnova.com)
  • Autoimmune Hemolytic Anemia includes any of a large group of anemias involving autoantibodies against red cell antigens . (diagnose-me.com)
  • Corticosteroids are indicated in autoimmune hemolytic anemia (AIHA). (medscape.com)
  • In autoimmune hemolytic anemia (AIHA), typing and cross-matching may be difficult. (medscape.com)
  • Jager U, Lechner K. Autoimmune hemolytic anemia. (medscape.com)
  • Cold agglutinin-mediated autoimmune hemolytic anemia. (medscape.com)
  • Risk of immune thrombocytopenic purpura and autoimmune hemolytic anemia among 120 908 US veterans with hepatitis C virus infection. (medscape.com)
  • Naik R. Warm autoimmune hemolytic anemia. (medscape.com)
  • Mayer B, Yürek S, Kiesewetter H, Salama A. Mixed-type autoimmune hemolytic anemia: differential diagnosis and a critical review of reported cases. (medscape.com)
  • Autoimmune hemolytic anemia following allogeneic hematopoietic stem cell transplantation in adult patients. (medscape.com)
  • [books.google.de] The phenotype of severe nonspherocytic hemolytic anemia , jaundice, hepatosplenomegaly, and marked erythroblastosis is more severe than that present in congenital dyserythropoietic [readbyqxmd.com] Pediatr Res. (symptoma.com)
  • Our patient presented at age 37 with recurrent pulmonary emboli, 36 years after splenectomy for severe hemolytic anemia. (nih.gov)
  • The anemia is chronic and may vary from mild to severe. (rarediseases.org)
  • After infections, the anemia tends to become more severe. (rarediseases.org)
  • 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)
  • G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. (genecards.org)
  • If there is massive bleeding from a wound or other lesion, the body may lose enough blood to cause severe and acute anemia, which is often accompanied by shock. (thefreedictionary.com)
  • The combination of poor diet and chronic loss of blood makes for particular susceptibility to severe anemia. (thefreedictionary.com)
  • Also reported as a severe fetal anaemia with hydrops fetalis due to the co-inheritance of Hb Hirosaki with an α0-thalassaemia mutation (--SEA). (ithanet.eu)
  • Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare condition mainly characterized by severe, chronic hemolysis , beginning in infancy. (cdc.gov)
  • [2] Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. (cdc.gov)
  • [2] [1] Treatment may include red cell transfusions for those with severe anemia. (cdc.gov)
  • However, the anemia associated with hexokinase deficiency is generally more severe. (cdc.gov)
  • Mild to severe chronic hemolytic anemia with an excess of young red blood cells (reticulocytosis) usually occurs. (lecturio.com)
  • Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary human enzyme deficiency, affecting more than 400 million people of predominantly African, Southeast Asian, Middle Eastern and Mediterranean descent and presents as neonatal jaundice and acute hemolytic anemia in its most severe forms. (oncologynurseadvisor.com)
  • Patients present with signs and symptoms of neonatal jaundice or hemolytic anemia, which are usually self-resolving and do not require treatment, except for their most severe forms. (oncologynurseadvisor.com)
  • The symptoms of hereditary nonspherocytic hemolytic anemia may include moderate anemia (which may cause tiredness), recurrent yellow appearance to the skin (jaundice), and an abnormally large spleen (splenomegaly) and/or liver (hepatomegaly). (rarediseases.org)
  • Symptoms of hereditary nonspherocytic hemolytic anemia include moderate anemia, intermittent yellowing of the skin (jaundice) and occasionally an enlarged spleen (splenomegaly). (rarediseases.org)
  • Excessive red blood cell destruction occurs which causes anemia, jaundice and a feeling of discomfort (malaise). (rarediseases.org)
  • [4] The signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency , a more common inherited cause of hemolytic anemia , and may include jaundice , fatigue, lethargy, and pale skin. (cdc.gov)
  • Although G6PDd individuals are generally asymptomatic throughout their life, the clinical burden of this genetic condition includes a range of haematological conditions, including acute haemolytic anaemia (AHA), neonatal jaundice (NNJ) and chronic non-sphaerocytic anaemia (CNSA). (biomedcentral.com)
  • It can manifest clinically as drug-induced hemolysis, infection induced hemolysis, favism, neonatal jaundice, or chronic non-spherocytic hemolytic anemia. (mpbio.com)
  • Neonatal jaundice due to G6PD deficiency differs from the classic Rhesus (Rh)-related jaundice in its time of onset (peak incidence between day 2 and 3) and severity of jaundice, which outweighs the severity of anemia. (oncologynurseadvisor.com)
  • Children or adults usually present with symptoms of fatigue, back pain, jaundice and shortness of breath, and are found to have evidence of hemolytic anemia (as described below). (oncologynurseadvisor.com)
  • Glycogen Storage Disease Xii, also known as aldolase a deficiency , is related to hemolytic anemia , and has symptoms including short neck , ptosis and intellectual disability . (malacards.org)
  • Mild degrees of anemia often cause only slight and vague symptoms, perhaps nothing more than easy fatigue or a lack of energy. (thefreedictionary.com)
  • Premature red cell death causes clinical symptoms of hemolytic anemia. (haematologica.org)
  • The continued destruction of red blood cells leads to anemia that manifests as easy fatigability , lethargy, and other symptoms. (lecturio.com)
  • G-6-PD Worcester is a variant of G-6-PD de- ficiency with congenital, nonspherocytic hemo- lytic anemia, absent erythrocyte G-6-PD activ- cipro uti still have symptoms, and optic atrophy. (msiw.ru)
  • Our bone marrow failure/anemia panel is intended for patients with abnormalities in more than 2 blood cell types (red blood cell, white blood cell, and platelets) who present symptoms of lethargy, recurrent infections, excessive bleeding, abnormal pigmentation, enlarged spleen, and malignancies. (centogene.com)
  • Pyruvate kinase deficiency (PKD) is the most common glycolytic enzyme deficiency causing congenital nonspherocytic hemolytic anemia with a variable clinical severity. (haematologica.org)
  • Pyruvate Kinase Deficiency (PKD) is an autosomal recessive enzyme defect of the glycolytic pathway that causes congenital, non-spherocytic hemolytic anemia. (physiciansweekly.com)
  • An international, multicenter registry was established to collect retrospective and prospective clinical data on patients with pyruvate kinase (PK) deficiency, the most common glycolytic defect causing congenital nonspherocytic hemolytic anemia. (luriechildrens.org)
  • Pyruvate kinase deficiency (PKD) is the most frequent glycolytic enzyme defect causing hereditary non-spherocytic hemolytic anemia. (haematologica.org)
  • Mutations of most of the enzymes in the glycolytic pathway have been described in association with congenital non-spherocytic haemolytic anaemia (CNSHA). (europeanmedical.info)
  • When red blood cell (RBC) glycolytic enzymes are deficient, a life-long non-spherocytic hemolytic anemia results and, in addition, platelet function can be impaired. (oncologynurseadvisor.com)
  • Pyruvate kinase deficiency is the most common glycolytic enzyme deficiency that leads to life-long hemolytic anemia. (oncologynurseadvisor.com)
  • 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)
  • 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)
  • It is one of a group of diseases known as hereditary nonspherocytic hemolytic anemias. (rarediseases.org)
  • 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)
  • Diseases associated with G6PD include Hemolytic Anemia Due To G6pd Deficiency and Favism . (genecards.org)
  • 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. (annals.org)
  • 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 57Disease definitionGlycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. (malacards.org)
  • Some types of anemia are named for the factors causing them: poor diet ( nutritional anemia ), excessive blood loss ( hemorrhagic anemia ), congenital defects of hemoglobin ( hypochromic anemia ), exposure to industrial poisons, diseases of the bone marrow ( aplastic anemia and hypoplastic anemia ), or any other disorder that upsets the balance between blood loss through bleeding or destruction of blood cells and production of blood cells. (thefreedictionary.com)
  • Inherited hemolytic anemias (IHAs) are genetic diseases that present with anemia due to the increased destruction of circulating abnormal RBCs. (bloodresearch.or.kr)
  • In the following list you will find some of the most common rare diseases related to Anemia and Lower limb muscle weakness that can help you solving undiagnosed cases. (mendelian.co)
  • There are numerous types of hemolytic anemia, and treatment may differ depending on the type of hemolysis. (medscape.com)
  • The degree of hemolysis can vary widely, from very mild and fully compensated forms to life-threatening anemia with transfusion dependency. (haematologica.org)
  • The severity of the anemia or the course of the onset of hemolysis depends on the extent of this destruction. (bloodresearch.or.kr)
  • Glucose-6-phosphate dehydrogenase (G6PD) can either present as a chronic hemolytic anemia or as sporadic episodes of hemolysis related to oxidant stresses that may occur with certain medications, infections or certain foods such as fava beans. (oncologynurseadvisor.com)
  • When hereditary nonspherocytic hemolytic anemia is associated with defects in the membrane of red blood cells, or defects in a chemical step in the synthesis of hemoglobin from its component parts (porphyrin), or in the breakdown of sugars, the disorder is inherited as an autosomal recessive genetic trait. (rarediseases.org)
  • Nonspherocytic hemolytic anemia due to hexokinase deficiency is inherited in an autosomal recessive manner. (cdc.gov)
  • Haemolytic anaemia due to PK deficiency is an autosomal recessive disorder. (europeanmedical.info)
  • Glucose-6-phosphate isomerase (GPI) deficiency is an autosomal recessive genetic disorder causing congenital haemolytic anaemia (CHA). (bmj.com)
  • When the red blood cells (erythrocytes) of a newborn contain irregularly shaped bits of abnormal hemoglobin (Heinz bodies), a diagnosis of nonspherocytic hemolytic anemia can be made. (rarediseases.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 abnormalities as well, but rather encompassing defects of glycolysis in the erythrocyte. (wikipedia.org)
  • Glucose-6-phosphate dehydrogenase deficiency (G6PD or favism) Pyruvate kinase deficiency Aldolase A deficiency Hemoglobinopathies/genetic conditions of hemoglobin Sickle cell anemia Congenital dyserythropoietic anemia Thalassemia Hematopoietic ulcer List of circulatory system conditions Rahman SA, Jamal CY (June 2002). (wikipedia.org)
  • The World Health Organization has defined anemia as a hemoglobin concentration below 7.5 mmol/L (12 g/dL) in women and below 8.1 mmol/L (13 g/dL) in men. (thefreedictionary.com)
  • Anemias can also be classified according to the morphologic characteristics of the erythrocytes, such as size ( microcytic , macrocytic , and normocytic anemias ) and color or hemoglobin concentration ( hypochromic anemia ). (thefreedictionary.com)
  • A type called hypochromic microcytic anemia is characterized by very small erythrocytes that have low hemoglobin concentration and hence poor coloration. (thefreedictionary.com)
  • Anemia may develop if the diet does not provide enough iron, protein, vitamin B 12 , and other vitamins and minerals needed in the production of hemoglobin and the formation of erythrocytes. (thefreedictionary.com)
  • Diagnostic testing for PK deficiency should be considered in patients with apparent congenital hemolytic anemia and close monitoring for iron overload, gallstones, and other complications is needed regardless of baseline hemoglobin. (luriechildrens.org)
  • [dx.doi.org] In this later group of " congenital nonspherocytic hemolytic anemias " splenectomy has often been performed but usually does not produce a clinical cure. (symptoma.com)
  • Differences in the clinical severity of the affected individuals, ranging from asymptomatic presentation (hypochromic and normocytic anaemia) to repeated hemolytic crises. (ithanet.eu)
  • Historically, assessments of haemolytic risk have focused on the clinical outcomes (e.g., haemolysis) associated with either a simplified phenotypic G6PD characterisation (deficient or normal) or an ill-fitting classification of G6PD genetic variants. (frontiersin.org)
  • We used targeted next-generation sequencing (NGS) clinical panel for diagnosis of unexplained haemolytic anaemia in two Indian patients which were pending for a long time. (bmj.com)
  • X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. (mendelian.co)
  • The diagnosis and treatment of cold agglutinin hemolytic anemia has been reviewed. (medscape.com)
  • Hereditary spherocytic hemolytic anemia (hereditary spherocytosis) is characterized by the presence of red blood cells with a greater than normal thickness giving them a spherical shape (spherocytes). (rarediseases.org)
  • Basically classified by causative mechanism, types of congenital hemolytic anemia include: Genetic conditions of RBC Membrane Hereditary spherocytosis Hereditary elliptocytosis Genetic conditions of RBC metabolism (enzyme defects). (wikipedia.org)
  • Congenital Hemolytic Anemia is a general term for hemolytic anemia that is present from birth and in which the lifespan of red blood cells is diminished, such as occurs in hereditary spherocytosis . (diagnose-me.com)
  • Congenital Nonspherocytic Hemolytic Anemia includes any of a group of inherited anemias characterized by shortened red cell survival, lack of spherocytosis, and normal osmotic fragility associated with erythrocyte membrane defects, multiple intracellular enzyme deficiencies or other defects, or unstable hemoglobins. (diagnose-me.com)
  • AK1 was identified because of its association with a rare genetic disorder causing nonspherocytic hemolytic anemia where a mutation in the AK1 gene was found to reduce the catalytic activity of the enzyme. (abnova.com)
  • G6PD Deficiency, or Glucose-6-Phosphate Dehydrogenase Deficiency as it is properly known, is a genetic disorder found mostly in people of African, Asian, Middle Eastern and Mediterranean decent which can cause anemia under certain conditions. (g6pddeficiency.org)
  • Metabolic abnormalities of erythrocytes from patients with congenital nonspherocytic hemolytic anemia. (semanticscholar.org)
  • There may be as many as 16 red blood cell enzyme abnormalities that may cause hereditary nonspherocytic hemolytic anemia. (rarediseases.org)
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities. (cdc.gov)
  • Hemolytic anemia due to abnormalities in erythrocyte nucleotide metabolism]. (biomedsearch.com)
  • Aparna, K. R. and Elizabeth, K. E. Congenital non spherocytic hemolytic anemia (CNSHA) due to pyrimidine 5' nucleotidase deficiency. (incredb.org)
  • Pyrimidine 5′ nucleotidase deficiency presents with congenital hemolytic anemia because the residual nucleotides in young red cells (reticulocytes) cannot be metabolized and are presumed toxic. (oncologynurseadvisor.com)
  • Congenital Adrenal Hyperplasia (CAH) occurs from a deficiency of 21-hydroxysteroid dehydrogenase, which is responsible for converting 17OHP to 11-desoxycortisol. (mpbio.com)
  • Zamvar V, McClean P, Odeka E, Richards M, Davison S. Hepatitis E virus infection with nonimmune hemolytic anemia. (medscape.com)
  • 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)
  • Thromboembolism has been reported as a complication following splenectomy for various hereditary chronic hemolytic anemias. (nih.gov)
  • Nonspherocytic hemolytic anemia due to hexokinase deficiency has been shown to be caused by mutations in the HK1 gene , which cause at least a partial deficiency of the enzyme hexokinase. (cdc.gov)
  • This rapid and high-performance targeted NGS assay can be configured to detect specific CHA mutations unique to an individual defect, making it a potentially valuable method for diagnosis of unexplained haemolytic anaemia. (bmj.com)
  • Hereditary nonspherocytic hemolytic anemia is a term used to describe a group of rare, genetically transmitted blood disorders characterized by the premature destruction of red blood cells (erythrocytes or RBCs). (rarediseases.org)
  • Nonspherocytic refers to the fact that the red blood cells do not assume a spherical shape, as they do with some blood disorders. (rarediseases.org)
  • Hereditary nonspherocytic hemolytic anemias are thought to be a heterogeneous group of disorders characterized by red blood cell defects situated entirely within these cells (intrinsic). (rarediseases.org)
  • Congenital hemolytic anemia refers to hemolytic anemia which is primarily due to congenital disorders. (wikipedia.org)
  • There is a general impression that additional studies should be carried out to establish the role and indications for EPO in hemolytic disorders. (medscape.com)
  • Phosphofructokinase deficiency associated with congenital nonspherocytic hemolytic anemia and mild myopathy: Biochemical and morphological studies on the muscle. (nii.ac.jp)
  • Pyruvate kinase (PK) deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. (semanticscholar.org)
  • Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia. (semanticscholar.org)
  • 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)
  • Pyruvate kinase (PK) deficiency is the most common cause of congenital non-spherocytic chronic hemolytic anemia and is the result of an erythrocyte enzyme defect. (htct.com.br)
  • Hexokinase deficiency manifests itself primarily as nonspherocytic hemolytic anemia (NSHA). (cdc.gov)
  • Back in the 1950's and 1960's we called it Familial Congenital Nonspherocytic Hemolytic Anemia Glucose 6 Phosphate Dehydrogenase Deficiency. (g6pddeficiency.org)
  • Congenital haemolytic anaemia associated with adenylate kinase deficiency. (abnova.com)
  • A familial congenital hemolytic anemia characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. (curehunter.com)
  • Occasionally, one can acquire a mild form of anemia through an autoimmune process. (diagnose-me.com)
  • Renard D, Rosselet A. Drug-induced hemolytic anemia: Pharmacological aspects. (medscape.com)
  • Most of the published works regarding drug-induced haemolysis in LA referred to haemolytic crises in P. vivax malaria patients during the course of the treatment with primaquine (PQ). (biomedcentral.com)
  • Hemolytic anemia due to the ingestion of fava beans or after inhalation of pollen from the vicia fava plant by persons with glucose-6-phosphate dehydrogenase deficient erythrocytes. (icd10data.com)
  • This is an uncommon anemia that develops when red blood cells are destroyed faster than bone marrow can replace them. (diagnose-me.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)
  • A study about sickle cell anemia in Arabs article about Birth defects 6Glucose Phisphate isomere deficiency responsible for unexpected hemolytic episodes. (wikipedia.org)
  • 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)
  • 71 Glycogen storage disease 12: A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. (malacards.org)
  • 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)
  • Besides the muscle weakness, fatigue, and exercise intolerance, a moderate hemolytic anemia due to impaired red blood cell glycolysis is also noted. (oncologynurseadvisor.com)
  • Other types include Microangiopathic Hemolytic Anemia, Nonspherocytic Hemolytic Anemia, Toxic Hemolytic Anemia (due to toxic agents, including drugs, bacterial lysins, and snake venoms) and Hemolytic Anemia of Newborn. (diagnose-me.com)
  • A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.Visit the Orphanet disease page for more resources. (malacards.org)
  • The thrombotic thrombocytopenic purpura and hemolytic uremic syndromes: overview of pathogenesis (Experience of The Oklahoma TTP-HUS Registry, 1989-2007). (medscape.com)