三种生化法和基因检测诊断G6PD缺陷症

目的：联合三种生化法和基因检测对G6PD缺陷症进行诊断，以提高这种儿科临床常见溶血性疾病的确诊率。方法：采用高铁血红蛋白还原试验、G6PD活性试验、G6PD定量比值法三种生化实验并联合应用南方地区常见的三种G6PD基因突变检测对急性溶血患儿57例进行诊断。结果：57例患儿中，高铁血红蛋白还原率降低52例，正常5例；G6PD活性低下51例，正常6例；G6PD／6PGD降低48例，正常9例。三种生化检测阳性率分别为91．2％、89．5％和84．2％；52例被检出存在基因突变，其中位点G1388A32例（61．5％）、G1376T16例（30．8％）、A95G4例（7．7％）。另有5例未能检测到有突变，估计属其它少见突变类型。结论：联合应用三种生化法和基因检测可以提高G6PD缺陷的确诊率。

Diagnosis of G6PD with biochemical methods and gene detection

Objective To establish a more effective method for diagnosis of G6PD with three biochemical methods combined with gene detection. Methods With methemoglobin reduction test(MRT),G6PD activity analysis (GAA) and G6PD/6GPD specific value detection (G6SVD) combined with PCR were used for diagnosis of 57 cases with acute hemoglytic anemia patients. Results Fifty two cases in 57 cases of MRT were decreased,5 cases were nomal.51 cases the G6PD activities were lower than those of nomal controls. The G6PD/6GPD specicific values were reduced in 48 cases,9 cases were nomal. The positive rates of MRT,GAA,G6SVD were 91.2%,89.5% and 84.2% respectively. Fifty cases had been found the gene mutations:32 cases(61.5%) were G1388A mutations,16 cases(30.8%)were G1376T,and 4 cases(7.7%)were A95G mutations.Conclusion The study suggests that application of both biothchmial methods and gene detection would improve the accurate and effective diagnosis for G6PD.