中外医学研究
中外醫學研究
중외의학연구
CHINESE AND FOREIGN MEDICAL RESEARCH
2015年
3期
9-10
,共2页
地中海贫血%G6PD缺乏症%G6PD活性
地中海貧血%G6PD缺乏癥%G6PD活性
지중해빈혈%G6PD결핍증%G6PD활성
Thalassemia%G6PD deficiency%G6PD activity
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。
目的：分析地貧閤併G6PD缺乏癥的G6PD活性範圍，從而提高國傢免費孕前優生健康檢查人群的診斷率。方法：α-THAL基因、β-THAL基因採用(RCR+膜雜交法)檢測，採用電泳法髮現的各種地貧用傢繫進行驗證；G6PD缺乏癥採用G6PD/6PGD酶直接比值法聯閤傢繫進行確診。結果：輕型α、β與重型β地貧以及HBH病患者的G6PD活性分彆約為正常人的1.5倍、2倍、>3倍、2~3倍；約有61.4%的地貧閤併G6PD缺乏癥女性雜閤子的G6PD活性範圍正常。結論：地貧閤併G6PD缺乏癥的女性雜閤子其G6PD活性漏診率為61.4%，G6PD活性增高的程度不同可輔助診斷不同類型地貧。
목적：분석지빈합병G6PD결핍증적G6PD활성범위，종이제고국가면비잉전우생건강검사인군적진단솔。방법：α-THAL기인、β-THAL기인채용(RCR+막잡교법)검측，채용전영법발현적각충지빈용가계진행험증；G6PD결핍증채용G6PD/6PGD매직접비치법연합가계진행학진。결과：경형α、β여중형β지빈이급HBH병환자적G6PD활성분별약위정상인적1.5배、2배、>3배、2~3배；약유61.4%적지빈합병G6PD결핍증녀성잡합자적G6PD활성범위정상。결론：지빈합병G6PD결핍증적녀성잡합자기G6PD활성루진솔위61.4%，G6PD활성증고적정도불동가보조진단불동류형지빈。
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.
