目的：分析地贫合并G6PD缺乏症的G6PD活性范围，从而提高国家免费孕前优生健康检查人群的诊断率。方法：α-THAL基因、β-THAL基因采用(RCR+膜杂交法)检测，采用电泳法发现的各种地贫用家系进行验证；G6PD缺乏症采用G6PD/6PGD酶直接比值法联合家系进行确诊。结果：轻型α、β与重型β地贫以及HBH病患者的G6PD活性分别约为正常人的1.5倍、2倍、>3倍、2~3倍；约有61.4%的地贫合并G6PD缺乏症女性杂合子的G6PD活性范围正常。结论：地贫合并G6PD缺乏症的女性杂合子其G6PD活性漏诊率为61.4%，G6PD活性增高的程度不同可辅助诊断不同类型地贫。%Objective:To analyze the merger thalassemia G6PD deficiency and G6PD activity range to improve national free pre-pregnancy health check diagnosis rate crowd.Method:α-THAL gene,β-THAL gene using(RCR+membrane hybridization) testing,using a variety of electrophoresis found thalassemia validated by pedigree;G6PD deficiency using G6PD/6PGD enzyme direct ratio method combined pedigrees were confirmed.Result:Lightweight α,β and heavy β-thalassemia and G6PD activity HBH patients were 1.5 times normal,two times,>3 times, 2-3 times;approximately 61.4% of the combined thalassemia heterozygotes female G6PD deficiency the G6PD activity was the normal range.Conclusion:G6PD deficiency merger thalassemia heterozygotes women missed their G6PD activity is 61.4%,G6PD activity increased in varying degrees can diagnose different types of thalassemia.
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