anemia, nonspherocytic hemolytic, due to G6PD deficiency
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.
MONDO:0000105
anemia, nonspherocytic hemolytic
is_a
MONDO:0005775
G6PD deficiency
is_a
MONDO:0019231
inborn disorder of pentose phosphate metabolism
is_a
MONDO:0020585
anemia due to erythrocyte enzyme disorder
is_a
Class I G6PD deficiency
exact
anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient
exact
anemia, nonspherocytic hemolytic, due to G6PD deficiency
exact
class I glucose-6-phosphate dehydrogenase deficiency
exact
hemolytic anaemia due to G6PD deficiency
exact
hemolytic anemia due to G6PD deficiency
exact
hemolytic anemia, G6PD deficient (favism), X-linked dominant
exact
severe hemolytic anaemia due to G6PD deficiency
exact
severe hemolytic anemia due to G6PD deficiency
exact
SPAC3A12.18