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Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Synonyms
ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 1; Class I glucose-6-phosphate dehydrogenase deficiency; Favism, susceptibility to; Hemolytic anemia due to G6PD deficiency
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Congenital nonspherocytic hemolytic anemia-1 (CNSHA1), caused by mutation in the G6PD gene, is the most common genetic form 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). [from OMIM]

Available tests

84 tests are in the database for this condition.

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Clinical tests (83 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CAGH39, CAMGUK, CMG, FGS4, LIN2, MICPCH, MRXSNA, TNRC8, hCASK, CASK
    Summary: calcium/calmodulin dependent serine protein kinase

  • Also known as: CNSHA1, G6PD1, G6PD
    Summary: glucose-6-phosphate dehydrogenase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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