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35 Possible Causes for Congenital Nonspherocytic Hemolytic Anemia, Erythrocytes Decreased, Hyperuricemia

  • Hereditary Spherocytosis

    Defects in these proteins lead to a loss in RBC membrane cohesion and membrane surface area, resulting in erythrocyte sphering, decreased deformability and premature destruction[orpha.net] Stability studies with blood from HS patients showed a significant decrease in hyperchromic erythrocytes after 6 h storage.[ncbi.nlm.nih.gov] […] encode the red blood cell (RBC) membrane proteins erythrocytic 1 spectrin alpha chain, erythrocytic 1 spectrin beta chain, ankyrin-1, band 3 anion transport protein, and erythrocyte[orpha.net]

  • Autoimmune Hemolytic Anemia

    Wadsworth, Hyperuricemia and Reticulocytopenia in Association With Autoimmune Hemolytic Anemia in Two Children, American Journal of Clinical Pathology, 10.1309/8DXD-VJT9-UN60[oadoi.org] Mechanisms of actions include suppression of autoantibody production, reduction in autoantibody affinity, and decreased destruction of erythrocytes by splenic macrophages,[doi.org] In patients with Evans syndrome, the mechanism of destruction of erythrocytes is thought to be similar to AIHA.[cancertherapyadvisor.com]

  • Glycogen Storage Disease Type 1

    All had hyperuricemia except for one patient with glycogenosis type III.[scholars.northwestern.edu] Phk activity in erythrocytes was markedly decreased (12% residual activity) while the parents' erythrocyte Phk activities were in the heterozygote range (mother: 56%; father[academic.oup.com] Chronic hepatitis Albuminuria Distal renal tubular acidosis Hepatocellular adenoma Hypocitraturia Cataract Hyperreflexia Gait disturbance Full cheeks Carcinoma Elevated erythrocyte[mendelian.co]

  • Hemolytic Anemia due to a Disorder of Glycolytic Enzymes

    HGPRT (converts hypoxanthine to IMP and guanine to GMP) X-linked recessive leads to excess uric acid production Findings include retardation, self mutilation, aggression, hyperuricemia[quizlet.com] Defective PK catalysis in affected erythrocytes generally results in elevated concentrations of 2,3-diphosphoglycerate (2,3-DPG) and decreased ATP levels relative to cells[ommbid.mhmedical.com] Summary Epidemiology PK deficiency is the most frequent cause of congenital nonspherocytic hemolytic anemia with a prevalence estimated at 1/20,000 in the general white population[orpha.net]

  • Congenital Heinz Body Hemolytic Anemia

    Glomerular diseases Glomus tumors Glucocorticoids Glucose-6-phosphate dehydrogenase deficiency Glycogen metabolism Glycolysis and gluconeogenesis Goiter Gonorrhea Gout and hyperuricemia[amboss.com] erythrocyte life span Double heterozygous sickling disorder Heinz bodies Hematopoietic maturation arrest Hemoglobin A1c above reference range Hemoglobin C disease Hemoglobin[icd9data.com] nonspherocytic hemolytic anemia * (n) 先天性貧血 P614 ** せんてんせいひんけつ PubMed, Scholar, Google, WikiPedia congenital anemia * (n*) 先天性溶血性貧血 *** せんてんせいようけつせいひんけつ シソーラス PubMed, Scholar[lsd-project.jp]

  • Anemia due to Glutathione Metabolism Disorder

    Hypoxanthine-Guanine Phosphoribosyltransferase (HGPRT) deficiency ------ no salvage pathway for purine re-synthesis ------ buildup of purine metabolites Hyperuricemia (gout[kumc.edu] Addition of copper to normal erythrocytes led to increased autohemolysis, thermolability of hemoglobin, increased sensitivity to acetylphenylhydrazine, decreased erythrocyte[annals.org] D58.9 ICD-10-CM Diagnosis Code D58.9 Hereditary hemolytic anemia, unspecified 2016 2017 2018 2019 Billable/Specific Code nonspherocytic congenital or hereditary NEC D55.8[icd10data.com]

  • Hexokinase Deficiency

    […] phosphate is shunted into alternative pathways resulting in 3 major metabolic consequences: [2] Hyperlacticacidemia, which develops as a byproduct of enhanced glycolysis Hyperuricemia[online.epocrates.com] Glucose consumption of the hexokinase-deficient cells was not appreciably decreased, probably because less of the potent inhibitor glucose-6-phosphate was present in the erythrocytes[ncbi.nlm.nih.gov] The findings were entirely different from those of subsequently reported cases with congenital, nonspherocytic hemolytic anemia associated only with a specific deficiency[jamanetwork.com]

  • Glucose-6-Phosphate Dehydrogenase Deficiency

    Pubmed and Google Scholar using the following key words: "methemoglobinemia", "rasburicase", "urate oxidase", tumor lysis syndrome", G6PD deficiency", "hemolytic anemia" and "hyperuricemia[ncbi.nlm.nih.gov] If t he fluidity of the cell interior or the surplus of cell surface is reduced, the “conformation instability” of the erythrocyte will decrease.[content.iospress.com] .: Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: A new variant (type Nordhorn). II.[link.springer.com]

  • Glycogen Storage Disease due to Phosphoglycerate Kinase 1 Deficiency

    […] phosphate is shunted into alternative pathways resulting in 3 major metabolic consequences: [2] Hyperlacticacidemia, which develops as a byproduct of enhanced glycolysis Hyperuricemia[online.epocrates.com] Biochemical analysis shows decreased PGK enzyme activity in muscle, erythrocytes [ 35 - 37 ], white cells and platelets [ 35 ].[ojrd.biomedcentral.com] , Hemolytic, Congenital Nonspherocytic Genetic Diseases, X-Linked Kidney Diseases Glycogen Storage Disease Type VII Multiple Acyl Coenzyme A Dehydrogenase Deficiency Genetic[clinicaltrials.gov]

  • Hypomandibular Faciocranial Dysostosis

    […] elliptocytosis Hereditary fructose intolerance Hereditary hearing disorder Hereditary hearing loss Hereditary hemochromatosis Hereditary hemorrhagic telangiectasia Hereditary hyperuricemia[starrepublic.org] He reports decreased appetite, malaise, and cough with minimal sputum. WebMD Inc, New York, March Vaginitis and Sexually Transmitted Diseases.[xpogo.com] Anemia, Cd59-Mediated, with or without Immune-Mediated Polyneuropathy; HACD59 OMIM:301015 Hemolytic Anemia, Congenital, X-Linked OMIM:600461 Hemolytic Anemia, Lethal Congenital[informatics.jax.org]

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