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)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, ...
Associated with hereditarySpherocyticDiseasesJaundiceGlycolyticSymptomsAutoimmune HemolyAdrenal HyperplasiaGeneticSpherocytosisNucleotidase deficiencyDiseaseCold Agglutinin Hemolytic AnemiaHemolysisNormocyticSyndromeAutosomalAbnormalitiesAcuteHereditary hemolytic anemiaMutationsDiagnosisNonimmune hemolytic anemiaInfectious hemolytic anemiaClinicalDisordersDrug-inducedPyruvate kinaseHexokinase DeficiencyMildFamilialAdenylate kinaseDeficientDisorderModerateNewbornDiamond-BlackfanHemoglobinopathiesAnomaliesGeneSideroblasticBone marrowImmune
- 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)
- Hereditary Spherocytosis, also known as congenital spherocytic hemolytic anemia , is related to spherocytosis, type 2 and hemoglobinopathy , and has symptoms including icterus An important gene associated with Hereditary Spherocytosis is SPTB (Spectrin Beta, Erythrocytic), and among its related pathways/superpathways are L1CAM interactions and Cell surface interactions at the vascular wall . (malacards.org)
- A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia. (abnova.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)
- G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. (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)
- Pyruvate Kinase Deficiency (PKD) is an autosomal recessive enzyme defect of the glycolytic pathway that causes congenital, non-spherocytic hemolytic anemia. (physiciansweekly.com)
- Mutations of most of the enzymes in the glycolytic pathway have been described in association with congenital non-spherocytic haemolytic anaemia (CNSHA). (europeanmedical.info)
- It can manifest clinically as drug-induced hemolysis, infection induced hemolysis, favism, neonatal jaundice, or chronic non-spherocytic hemolytic anemia. (mpbio.com)
- Aparna, K. R. and Elizabeth, K. E. Congenital non spherocytic hemolytic anemia (CNSHA) due to pyrimidine 5' nucleotidase deficiency. (incredb.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)
- 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)
- Patients present with seizures, intellectual disability and a non-spherocytic hemolytic anemia. (oncologynurseadvisor.com)
- Chronic non-spherocytic hemolytic anemia (Class I variants). (oncologynurseadvisor.com)
- It is one of a group of diseases known as hereditary nonspherocytic hemolytic anemias. (rarediseases.org)
- Diseases associated with G6PD include Hemolytic Anemia Due To G6pd Deficiency and Favism . (genecards.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)
- Dr Thurman' guidebook about Rare genetic diseases another book Arabic genetic disorders layman guide Suadi 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)
- 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)
- 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)
- 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)
- [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)
- 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)
- People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). (malacards.org)
- People with the moderate form typically have anemia, jaundice, and splenomegaly. (malacards.org)
- 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)
- 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)
- 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)
- Pyruvate kinase deficiency (PKD) is the most common glycolytic enzyme deficiency causing congenital nonspherocytic hemolytic anemia with a variable clinical severity. (haematologica.org)
- 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 is the most common glycolytic enzyme deficiency that leads to life-long hemolytic anemia. (oncologynurseadvisor.com)
- Mild degrees of anemia often cause only slight and vague symptoms, perhaps nothing more than easy fatigue or a lack of energy. (thefreedictionary.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)
- People with the mild form may have very mild anemia or sometimes have no symptoms. (malacards.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)
- 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)
- Congenital Adrenal Hyperplasia (CAH) occurs from a deficiency of 21-hydroxysteroid dehydrogenase, which is responsible for converting 17OHP to 11-desoxycortisol. (mpbio.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)
- 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)
- 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)
- Glucose-6-phosphate isomerase (GPI) deficiency is an autosomal recessive genetic disorder causing congenital haemolytic anaemia (CHA). (bmj.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)
- Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency. (biomedsearch.com)
- 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)
- 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)
- Pyrimidine 5'-nucleotidase deficiency is a rare autosomal recessive disorder characterized by haemolytic anaemia, marked basophilic stippling and accumulation of pyrimidine nucleotides within the erythrocytes. (biomedsearch.com)
- For more information, choose "nonspherocytic anemia" as your search term in the Rare Disease Database. (rarediseases.org)
- 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)
- 71 Glycogen storage disease 12: A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. (malacards.org)
- Initially reported in a family with congenital nonspherocytic hemolytic disease, later in additional families and as a sporadic case. (ithanet.eu)
- Phenylketouria is a congenital disease resulting in elevated blood levels of phenylalanine and excessive excretion of phenylpyruvic acid. (mpbio.com)
- Anemia, obstructive lung disease, cystic fibrosis , and congenital heart disease are all accompanied by increases in 2,3-DPG. (encyclopedia.com)
- Increased levels of 2,3-DPG are found in conditions in which the body needs more oxygen, such as anemia, obstructive lung disease, cystic fibrosis , congenital heart disease , and hyperthyroidism. (encyclopedia.com)
- The diagnosis and treatment of cold agglutinin hemolytic anemia has been reviewed. (medscape.com)
- There are numerous types of hemolytic anemia, and treatment may differ depending on the type of hemolysis. (medscape.com)
- 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)
- Differences in the clinical severity of the affected individuals, ranging from asymptomatic presentation (hypochromic and normocytic anaemia) to repeated hemolytic crises. (ithanet.eu)
- 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)
- 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)
- Pyrimidine 5' nucleotidase (P5'N-1) deficiency is an autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. (biomedsearch.com)
- Pyrimidine 5' nucleotidase-I (P5N-I) deficiency is a rare autosomal recessive disorder associated with hemolytic anemia, marked basophilic stippling, and accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. (biomedsearch.com)
- 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)
- 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)
- Congenital hemolytic anemia (or hereditary hemolytic anemia) refers to hemolytic anemia which is primarily due to congenital disorders. (wikipedia.org)
- 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)
- Recently, next-generation targeted sequencing is more useful in the diagnosis of unexplained haemolytic anaemia. (bmj.com)
- 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)
- Diagnosis is mostly conducted during childhood after the child suffers symptomatic anemia. (lecturio.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)
- [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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Hexokinase deficiency manifests itself primarily as nonspherocytic hemolytic anemia (NSHA). (cdc.gov)
- Occasionally, one can acquire a mild form of anemia through an autoimmune process. (diagnose-me.com)
- Twenty-two patients with mild haemolytic anaemia and haemoglobin (Hb) Constant Spring (CS) of around 6% were studied because they were suspected of having homozygous Hb CS. (biomedsearch.com)
- A familial congenital hemolytic anemia characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. (curehunter.com)
- 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)
- 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)
- Iron overload due to multiple transfusions for chronic anemia (eg, thalassemia or sickle cell disorder) can be treated with chelation therapy. (medscape.com)
- 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)
- Diamond Blackfan anemia is mediated by hyperactive Nemo-like kinase. (stanford.edu)
- 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)
- DBA is characterized by anemia, congenital anomalies, and cancer predisposition. (stanford.edu)
- 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)
- It's observed in the setting of medical conditions such as leukemia and refractory sideroblastic anemia or after chemotherapy. (lecturio.com)
- This is an uncommon anemia that develops when red blood cells are destroyed faster than bone marrow can replace them. (diagnose-me.com)
- Immune Hemolytic Anemia is an acquired hemolytic anemia in which a hemolytic response is caused by isoantibodies or autoantibodies produced on exposure to drugs, toxins, or other antigens. (diagnose-me.com)