葡萄糖-6-磷酸脱氢酶缺乏症的研究进展

Research progress on glucose-6-phosphate dehydrogenase deficiency

葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是人类最常见的遗传性细胞酶病，在全世界约有4亿多人受累，在一些国家和地区也已成为一个重要的公共卫生问题。G6PD缺乏症多分布于非洲热带、亚洲热带和亚热带、中东、地中海和巴布亚一新几内亚地区。该文对G6PD缺乏症的流行病学、遗传学、分子生物学、临床表现和诊断等方面的研究进展作一综述。

Glucose-6-phosphate dehydrogenase （G6PD） deficiency, an X-linked disorder, is one of the most common enzymopathies in the world, with about 400 million people affected. G6PD deficiency is also one of the major public health problems in many parts of the world. The frequency of this disorder is extremely high in tropical Africa, tropical Asia and subtropical area, the Middle East, Mediterranean regions and Papua New Guinea regions. This article reviews the research progress on epidemiology, genetics, molecular biology, clinical symptom and diagnostics of G6PD deficiency.