佛山市顺德区孕前优生检查人群地中海贫血的产前筛查及产前诊断研究

Prenatal screening and prenatal diagnosis of thalassemia in population undergoing prepregnancy eugenic examination in Shunde district of Foshan city

目的了解孕前优生检查人群地中海贫血(简称地贫)基因类型和携带率。方法佛山市顺德区30 868对夫妇(共61 736人)用血液学指标结合血红蛋白电泳法进行地贫初筛,初筛阳性者使用跨越断裂点PCR(Gap-PCR)法和反向斑点杂交(RDB)技术确定基因型。结果地贫初筛阳性率为15.46%,其中α-、β-地贫分别占78.72%、21.28%。地贫基因携带率为14.92%,其中单纯α-地贫基因携带率为76.25%(SEA基因型占60.28%),单纯β-地贫基因携带率为22.71%(CD41-42位点突变占36.68%),αβ-复合型地贫基因携带率为1.04%(SEA/CD41-42突变基因占36.46%)。夫妇双方为同型地贫基因携带者共284对,胎儿产前诊断检出中间型α-地贫18例,重型α-地贫36例,重型β-地贫20例。结论顺德区孕前优生检查人群地贫主要为单纯α-、β-地贫基因。同型地贫基因携带者的高危夫妇要进行胎儿产前诊断,以降低重型地贫患儿出生率。

Objective To investigate the gene types and carrying rate of thalassemia in population undergoing prepregnancy eugenic examination.Methods The initial thalassemia screening was performed by hematology index and hemoglobin electrophoresis in 61736 subjects,and the genotypes were determined by Gap-PCR and reverse spot hybridization.Results The positive rate of initial thalassemia screening was 15.46%,with 78.72%ofα-and 21.28%ofβ-thalassaemia.The carrying rate of thalassaemia gene was 14.92%,of which pureα-thalassaemia,pureβ-thalassaemia,andαβ-complex thalassaemia genes were 76.25%(SEA gene for 60.28%),22.71%(CD41-42 for 36.68%),and 1.04%(SEA/CD41-42 for 36.46%),respectively.Of 284 pairs carrying same thalassaemia genotypes,prenatal diagnosis revealed 18 cases of intermediateα-thalassaemia,36 cases of severeα-thalassaemia,and 20 cases of severeβ-thalassaemia.Conclusion The main genotypes of thalassaemia areα-andβ-thalassaemia in Shunde district.Prenatal diagnosis should be made in high-risk couples carrying same thalassaemia genotypes to reduce the birth rate of severe thalassaemia.