Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency (NSHA)

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OMIM 57 300908 Disease Ontology 12 DOID:13628 ICD10 33 D55.0 MeSH 44 D005236 D000746 NCIt 50 C34607

SNOMED-CT 68 76500009 Orphanet 59 ORPHA466026 MedGen 42 C2720289 CN069445 SNOMED-CT via HPO 69 398979000 46049004 111583006 68600005 165479004 387712008 7752002 165475005 57241006 more UMLS 73 C0015702

OMIM : ⁵⁷ G6PD deficiency is the most common genetic cause of chronic and drug-, food-, or infection-induced hemolytic anemia. G6PD catalyzes the first reaction in the pentose phosphate pathway, which is the only NADPH-generation process in mature red cells; therefore, defense against oxidative damage is dependent on G6PD. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening. The most common clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which in most patients is triggered by an exogenous agent, e.g., primaquine or fava beans. Acute hemolysis is characterized by fatigue, back pain, anemia, and jaundice. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. The striking similarity between the areas where G6PD deficiency is common and Plasmodium falciparum malaria (see 611162) is endemic provided evidence that G6PD deficiency confers resistance against malaria (summary by Cappellini and Fiorelli, 2008). (300908)

MalaCards based summary : Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency, also known as favism, is related to glucosephosphate dehydrogenase deficiency and methemoglobinemia. An important gene associated with Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency is G6PD (Glucose-6-Phosphate Dehydrogenase), and among its related pathways/superpathways are Protein-protein interactions at synapses and ATM Signaling Network in Development and Disease. Affiliated tissues include testes, neutrophil and testis, and related phenotypes are pallor and hemoglobinuria

Disease Ontology : ¹² A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans.

UniProtKB/Swiss-Prot : ⁷⁵ Anemia, non-spherocytic hemolytic, due to G6PD deficiency: 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.

Clinical features from OMIM:

300908

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