谢文杏 王纳 王理娟 吴小宁

摘要：目的 了解白沙县地中海贫血孕妇产前基因诊断结果及胎儿出生后的情况，探讨预防地贫患儿出生的有效手段具有深远的意义。方法 对2013年至2020年所有到白沙县计划生育服务中心接受免费孕前优生和地中海贫血筛查的育龄夫妇，经评估可能遗传中间型或重症地贫胎儿的218例孕妇进行产前地中海贫血基因检测结果进行分析，并进行产后追踪随访。结果 218例地贫孕妇于产前共检出重型地贫胎儿20例（水肿胎2例，重型β-地贫18例），HbH病17例，中间型β-地贫1例，α-地贫基因携带者53例，β-地贫基因携带者43例，αβ复合型地贫23例（其中2例β-重型复合型），正常胎儿61例。结论 通过开展孕前优生健康检查和地中海贫血筛查，结合地贫产前基因诊断，能够有效阻断重型地贫患儿的出生。

关键词 地中海贫血;基因诊断;产前诊断;高风险人群;筛查;随访

【中图分类号】R271 【文献标识码】A 【文章编号】1673-9026（2021）03-083-02

Objective to understand the prenatal genetic diagnosis results of thalassemia pregnant women and the situation of the fetus after birth in Baisha County，so as to provide reference for the primary prevention of thalassemia.Methods from 2013 to 2020，218 pregnant women of childbearing age who received free pre pregnancy eugenics and thalassemia screening in Baisha County family planning service center were assessed to have intermediate or severe thalassemia.The results of prenatal thalassemia gene testing were analyzed，and the postpartum follow-up was conducted.Results among 218 pregnant women with thalassemia，20 cases of severe thalassemia were detected （2 cases of edematous fetus，18 cases of severe β - thalassemia），17 cases of HbH disease，1 case of intermediate β - thalassemia，53 cases of α - thalassemia gene carriers，43 cases of β - thalassemia gene carriers，23 cases of α - β compound thalassemia （2 cases of β - severe compound thalassemia），and 61 cases of fetus without thalassemia gene.Conclusion pre pregnancy eugenic health examination and thalassemia screening combined with prenatal gene diagnosis of thalassemia can effectively block the birth of children with severe thalassemia.

Keywords thalassemia genetic diagnosis; prenatal diagnosis; high risk population; screening; follow-up

地中海貧血（以下简称地贫）是一组遗传性溶血性疾病。其中的重型地贫患儿如无适当输血治疗，往往于婴幼儿期死亡[1];存活的患儿需要终身接受定期输血和除铁治疗。要根治重型地贫，需要进行造血干细胞移植，但其高昂的治疗费用给家庭带来沉重经济压力和巨大精神痛苦。因此，做好预防控制重型、中间型地中海贫血患儿出生工作具有重要意义。白沙县是海南省地贫高发区，为了了解我白沙县地贫胎儿发生率，做好当地有关防控地贫服务工作，现将我县于2013年至2020年期间经筛查确诊为地贫高危人群的256例孕妇产前胎儿基因诊断结果及随访情况分析如下。……