Ravindranath Y, Beutler E
Am J Hematol. 1987 Apr;24(4):357-63. doi: 10.1002/ajh.2830240405.
Two new deficient variants of glucose-6-phosphate dehydrogenase (G6PD) causing hereditary nonspherocytic hemolytic anemia (HNSHA) are described. Both of these are unique and they have been named G6PD Wayne and G6PD Huron. Patients with G6PD Wayne underwent splenectomy and no objective improvement was noted. The patients with G6PD Huron were under medical observation for a considerable period of time without the diagnosis of G6PD deficiency being entertained because the family was of Northern European origin. Since sporadic variants of G6PD causing HNSHA show no special racial predilection, the diagnosis of G6PD deficiency should always be considered in patients with this syndrome.
描述了两种新的葡萄糖-6-磷酸脱氢酶（G6PD）缺陷变体，它们可导致遗传性非球形细胞溶血性贫血（HNSHA）。这两种变体都很独特，分别被命名为G6PD韦恩和G6PD休伦。患有G6PD韦恩的患者接受了脾切除术，但未观察到客观改善。患有G6PD休伦的患者在相当长一段时间内接受医学观察，由于该家族来自北欧，因此未考虑G6PD缺乏症的诊断。由于导致HNSHA的G6PD散发病例没有特殊的种族倾向，因此对于患有该综合征的患者，应始终考虑G6PD缺乏症的诊断。
