珠海地区地中海贫血基因检测结果分析

Analysis of thalassemia gene detection results in Zhuhai city

目的了解珠海地区孕前地中海贫血基因检测中α-缺失型地贫和β-地贫的基因检出情况。方法回顾性分析2018年1月至2019年6月在珠海市妇幼保健院参加孕前检查的25320对夫妇(50640人)的地贫基因检测结果。结果25320对夫妇的地贫基因携带率为13.73%(6951/25320),其中α-地贫基因携带率为9.85%(4986/25320),β-地贫基因携带率为3.88%(1965/25320);α-地贫基因携带者检出9种基因型,5种缺失型α-地贫基因为--SEA、-α3.7、-α4.2、--THAI、αααHK,其等位基因构成比分别为77.10%、15.94、6.32%、0.50%、0.14%;β-地贫基因携带者共检出16种基因型,其等位基因排在前6位的型别分别为CDs41-42(40.81%)、IVS-Ⅱnt654(25.14%)、TATA box-28(16.03%)、CD17(8.96%)、CD26(3.41%)、CDs71-72(2.39%)。结论珠海市新婚夫妇地贫基因携带率仍较高,携带者需加强遗传咨询,对于符合产前诊断指征的孕妇及时进行遗传咨询和干预管理,严控重型地贫出生率,优生优育。

Objective To investigate the gene frequency ofα-thalassemia andβ-thalassemia before pregnancy in Zhuhai city.Methods The results of genetic testing for thalassemia in 25320 married couples who participated in pre-pregnancy eugenic health examination in Zhuhai Municipal Maternity and Child Healthcare Hospital from January 2018 to June 2019 were retrospectively analyzed.Results The carrying rate of thalassemia gene in 25320 married couples(50640 persons)was 13.73%(6951/25320),of which 9.85%(4986/25320)wereα-thalassemia genes and 3.88%(1965/25320)wereβ-thalassemia genes.A total of 9 genotypes were detected in the carriers ofα-thalassemia gene carriers,and the allele composition ratios of the five deletedα-thalassemia genes of-SEA,-α3.7,-α4.2,-THAI,andαααHK were 77.10%,15.94%,6.32%,0.50%,and 0.14%,respectively.A total of 16 genotypes were detected inβ-thalassemia gene carriers,while the top six alleles were CDs41-42(40.81%),IVS-Ⅱnt654(25.14%),TATA box-28(16.03%),CD17(8.96%),CD26(3.41%),CDs71-72(2.39%).Conclusion The carrier rate of thalassemia genes in married couples in Zhuhai City is still high,and the carriers should strengthen genetic counseling.For those who meet the prenatal diagnosis indications,prenatal diagnosis should be carried out in time,birth rate of severe thalassemia should be strictly controlled,and eugenics should be improved.