我国葡萄糖-6-磷酸脱氢酶缺乏症的分布特征和基因突变

The distribution characterization and gene mutation of Glucose- 6- phosphate dehydrogenase deficiency in China

葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenas,G6PD)缺乏症是最常见的遗传性酶缺陷疾病,可导致急性溶血性贫血、新生儿高胆红素血症和慢性非球形红细胞溶血性贫血等疾病,其发生率和基因突变类型有明显的地域和种族特异性,本文主要综述了中国不同民族和地区G6PD缺乏症的分布特点和基因突变。

Glucose-6-phosphate dehydrogenase（G6PD） deficiency is a common inherited disorder worldwide. It may cause a large spectrum of diseases including neonatal jaundice, acute hemolysis, and severe chronic non-spherocytic hemolytic anemia. The frequency and gene mutation type of G6 PD deficiency showed specific characteristics among widely varied regions and ethnic groups. This article characterizes the distribution and gene mutation G6 PD deficiency among the different regions and ethnics groups in China.