Miyazaki S
Department of Pediatrics, Saga Medical School.
Nihon Rinsho. 1996 Sep;54(9):2416-22.
Gene analysis in hemolytic anemia has been reported recently. It is now recognized that inherited molecular defects of red blood cell membrane proteins have at least five phenotypes. The recent cloning of the G-6-PD gene has given us an entirely new perspective on the population genetics of G-6-PD deficiency and provided new and useful diagnostic tools. Prenatal diagnosis of thalassemia has been possible. Deficiency of the GPI anchor protein may be caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.
最近已有关于溶血性贫血的基因分析报道。目前已认识到红细胞膜蛋白的遗传性分子缺陷至少有五种表型。最近G - 6 - PD基因的克隆为我们提供了关于G - 6 - PD缺乏症群体遗传学的全新视角，并提供了新的有用诊断工具。地中海贫血的产前诊断已成为可能。阵发性夜间血红蛋白尿中糖基磷脂酰肌醇（GPI）锚定蛋白的缺乏可能由PIG - A基因的体细胞突变引起。
