Glucose-6-phosphate dehydrogenase Durham: A de novo mutation associated with chronic hemolytic anemia

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked enzyme defect. We report a new variant, G6PD Durham ^7^1^3^G , that is associated with chronic nonspherocytic hemolytic anemia. The G6PD Durham ^7^1^3^G variant has a unique biochemical and enzymatic profile and a novel A->G substitution mutation at nucleotide 713, changing lysine to arginine at amino acid 238. This mutation was not found in the mother of our patient, indicating that G6PD Durham ^7^1^3^G resulted from a de novo mutation. (J Pediatr 1997;131:284-7)