Disease association ontology term - MONDO:0010480 - anemia, nonspherocytic hemolytic, due to G6PD deficiency
Term summary
- ID
- MONDO:0010480
- Name
- anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Ontology or CV name
- Disease association
- Definition
- Any 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.
