Class I glucose-6-phosphate dehydrogenase deficiency
Synonyms: Class I G6PD deficiency | Severe hemolytic anemia due to G6PD deficiency
A rare constitutional hemolytic anemia due to an enzyme disorder characterized by severe glucose-6-phosphate dehydrogenase deficiency (typically <10% residual enzyme activity) associated with chronic non-spherocytic hemolytic anemia of highly variable severity. Patients are at risk of developing neonatal jaundice (potentially leading to kernicterus) gallstones and reticulocytosis and splenomegaly. They have an increased susceptibility to oxidizing agents provoking episodes of acute hemolysis. Favism which describes the occurrence of an acute hemolytic reaction in response to the ingestion of fava beans is more common in infants and young children.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Class I glucose-6-phosphate dehydrogenase deficiency?
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Syndromes Without A Name (SWAN) Australia
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