Zimmerman S A, Ware R E, Forman L, Westwood B, Beutler E
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
J Pediatr. 1997 Aug;131(2):284-7. doi: 10.1016/s0022-3476(97)70167-7.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked enzyme defect. We report a new variant, G6PD Durham713G, that is associated with chronic nonspherocytic hemolytic anemia. The G6PD Durham713G 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 Durham713G resulted from a de novo mutation.
