产前地中海贫血筛查的价值分析

Value analysis of prenatal thalassemia screening

目的分析妊娠早期或中期开展产前地中海贫血筛查的临床价值。方法采用地贫初筛(血液分析MCV、MCH)结合地贫复筛(Hb电泳分析)的简捷经济检测步骤,指导后续地贫基因诊断,对在潮州市湘桥区妇幼保健院进行产前地贫筛查的2664例受检者进行检测,统计并记录受检者的筛查结果和地贫基因类型。结果2664例受检者经地贫初筛,筛查出阳性地贫患者410例,阳性率为15.39%;再经过地贫复筛检测出阳性患者358例,阳性率为13.44%。地贫筛查出阳性患者358例参加地贫基因检测,检出地贫236例,检出率65.92%,其中α-地贫165例,检出率46.09%;β-地贫68例,检出率18.99%;α复合β-地贫3例,检出率0.84%。结论通过地贫初筛和复筛的手段指导后续地贫基因诊断,有利于地贫携带者检出,避免重症地贫儿的出生,临床应用价值较高。

Objective To carry out antenatal thalassemia screening in the early or middle trimester of pregnancy,to prevent the birth of children with severe thalassemia.Methods The simple economic detection steps of thalassemia primary screening(blood analysis MCV,MCH)combined with thalassemia recovery screening(Hb electrophoresis analysis)were used to guide the subsequent gene diagnosis of thalassemia.2664 subjects screened for thalassemia in Xiangqiao District Maternal and Child Health Hospital of Chaozhou City were tested.The screening results and gene types of thalassemia were counted and recorded.Results 2664 patients were screened for thalassemia,Screening of 410 cases of positive thalassemia,The positive rate was 15.39%.and then through re-screening 358 patients were positive for thalassemia.The positive rate was 13.44%.358 cases of thalassemia positive patients participated in the detection of thalassemia gene,236 cases of thalassemia were detected,the detection rate was 65.92%.Among them,165 cases ofα-thalassemia were detected,the detection rate was 46.09%,68 cases ofβ-thalassemia were detected,18.99%,and 3 cases ofαcompoundβ-thalassemia were detected,the detection rate was 0.84%.Conclusion As a diagnostic method of thalassemia,thalassemia screening(including primary screening and repeated screening)can greatly reduce the social and economic burden and waste of medical resources,and has good application value.