摘要
目的 了解湖南长沙地区葡萄糖- 6 -磷酸脱氢酶(G6PD)缺乏症的基因突变类型,探讨G6PD缺乏基因突变与婴幼儿急性溶血性贫血的关系。方法 采用突变特异性扩增系统方法对10 3例G6PD缺乏引起的急性溶血性贫血患儿进行G6PD基因突变检测,并对其临床表现进行分析。结果 10 3例G6PD缺乏引起的急性溶血性贫血患儿中检出G1388A2 1例(2 0 .4 % ) ,G1376T4 1例(39.8% ) ,A95G32例(31.1% ) ,未知型9例(8.7% )。各基因型的酶活性比较无显著性差异(P >0 .0 5 ) ,溶血持续天数比较差异无显著性(P >0 .0 5 ) ,各基因型的血红蛋白含量及红细胞数比较差异有显著性(P <0 .0 1) 。结论 G1388A、G1376T、A95G基因突变型是湖南长沙地区最常见的G6PD缺乏基因突变类型,且均可引起婴幼儿急性溶血性贫血,进食蚕豆是重要的诱发因素。三种基因型引起的急性溶血性贫血溶血程度有差异。
Objective To investigate the types of genetic mutations in neonates with glucose-6-phosphate dehydrogenase deficiency (G6PD) and to explore the relationship between G6PD genetic mutations and infantile acute hemolytic anemia. Methods 103 infantes with G6PD were enrolled in the study. Their clinical manifestations were analyzed and genetic mutations were detected by amplification specific mutation system. Results 21 (20.4 %) patients' mutation type was G1388A, 41 (39.8 %) were G1376T, 32 (31.1 %) were A95G, and 9 (8.7 %) were undetermined. There were no significant differences in active of G6PD,days of durative hemolysis(P>0.05). There was significant difference in hemoglobin contents and RBC amout(P<0.01). Conclusions G1388A, G13766T and A95G were main types of G6PD genetic mutations in Changsha city, Hunan province. All of these mutations can cause infantile acute hemolytic anemia,the main inducement was eating horsebean. There was significant difference in degree of hemolysis.
