葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症呈X连锁不完全显性遗传。G6PD具有遗传多态性,其基因定位在染色体Xq28[1],现已鉴定的G6PD基因突变型有131种,在我国已报道的有20种[2],其中多为点突变。G6PD缺乏症呈全球性、多种族、多民族分布,其基因突变型具有民族和种族异质性,我国是一个多 Glucose-6-phosphate dehydrogenase (G6PD) deficiency was X-linked imperfect dominant inheritance. G6PD has a genetic polymorphism. Its gene is located on chromosome Xq28 [1]. There are 131 G6PD gene mutations that have been identified, 20 of which have been reported in China [2], of which many are point mutations. G6PD deficiency is global, multi-racial and multi-ethnic distribution, its genetic mutation has ethnic and racial heterogeneity, our country is more