1642例地中海贫血的产前筛查与产前诊断结果分析

Analysis on screening and prenatal diagnosis of thalassemia in 1642 cases

目的了解广州市白云区地中海贫血的发生情况,基因突变类型及构成比,并探讨地贫产前筛查及产前基因诊断的临床意义。方法抽取受检者的静脉血,采用MCV、MCH初筛,对初筛阳性者进行基因检测。携带同型地贫基因的高危夫妇行产前基因诊断,并进行随访。结果 116530个体中,确诊为地贫携带者1642例,其中α-地贫携带者1119例,β-地贫携带者467例,αβ复合型地贫携带者56例,携带率分别为6.77%(1119/16530)、2.83%(467/16530)、0.34%(56/16530);2α-地贫基因型以--SEA/αα最多,占76.77%,β-地贫基因型以CD41-42/N最多,占41.11%;379对夫妇为同型地贫基因携带者行产前诊断,18例胎儿确诊为中间型或重型地贫,经孕妇同意终止妊娠;4随访结果与产前诊断一致。结论本地区是地贫的高发区,对孕妇开展产前筛查和产前诊断可有效防止重型地贫患儿的出生,对提高人口素质有重要意义。

Objective：To explore the incidence and genotype composition of thalassemia in Baiyun area of Guangzhou,and to provide clinical basis for genetic counselling. Methods：16 530 cases were screened by routine blood test,then thalassemia gene mutations were detected on screening positive peoples. Couples who diagnosed as carriers of the same thalassemia gene,carried prenatal gene diagnosis. Results：①In 16 530 cases,1642 cases were diagnosed definitely by gene detection,including 1119α-thalassemia,467 β-thalassemia and 56 α-thalassemia combined with β-thalassemia. ②--SEA/αα is the main α-thalassemia type and CD41-42/N is the main β-thalassemia type. ③79 couples were diagnosed as carriers of the same thalassemia gene,among their fetuses,18 fetuses were diagnosed definitely as severe thalassemia,all the couples terminated pregnancy after prenatal diagnosis. ④The results of postpartum follow-up were consistent with the results of prenatal diagnosis. Conclusion：Baiyun area of Guangzhou is a high incidence area of thalassemia,prenatal screening and diagnosis in pregnant women can effectively control the birth of children with severe thalassemia.