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Anemia, nonspherocytic hemolytic, due to G6PD deficiency
rareAny nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous or homozygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) will clinically manifest CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for severe neonatal jaundice and acute exacerbation of their chronic hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.
- Identifiers
- MONDO:0010480 OMIM:300908Orphanet:466026
- Part of
- G6PD deficiencyAnemia due to erythrocyte enzyme disorderAnemia, nonspherocytic hemolyticInborn disorder of pentose phosphate metabolism
- Also known as
- anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient · Class I G6PD deficiency · class I glucose-6-phosphate dehydrogenase deficiency · hemolytic anaemia due to G6PD deficiency · hemolytic anemia due to G6PD deficiency
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