Mondo term: G6PD deficiency, with chronic non-spherocytic hemolytic anemia (CNSHA) (MONDO:0010480)

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“An X-linked genetic condition caused by alterations in the gene G6PD that result in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) have CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.”

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ClinGen G6PD VCEP: https://www.clinicalgenome.org/affiliation/50147/