/anemia, nonspherocytic hemolytic, due to G6PD deficiency

anemia, nonspherocytic hemolytic, due to G6PD deficiency

Rare Disease

MONDO:0010480

Also Known As

Class I G6PD deficiencyanemia, congenital, nonspherocytic hemolytic, 1, G6PD deficientanemia, nonspherocytic hemolytic, due to G6PD deficiencyclass I glucose-6-phosphate dehydrogenase deficiencyhemolytic anaemia due to G6PD deficiencyhemolytic anemia due to G6PD deficiencyhemolytic anemia, G6PD deficient (favism), X-linked dominantsevere hemolytic anaemia due to G6PD deficiencysevere hemolytic anemia due to G6PD deficiency

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.