东莞地区孕前优生健康检查夫妇地中海贫血结果分析  

Analysis on thalassaemia screening results of couples during pre-pregnancy health examination in Dongguan area

作　　者：姜碧[1] 姚倩瑜[1] 韦思似 叶泳[1] 刘惠[1] 钟鸣[1] 莫清萍[1] 

机构地区：[1]东莞市计划生育服务中心,广东东莞523000

出　　处：《中国妇幼保健》2016年第7期1475-1477,共3页Maternal and Child Health Care of China

基　　金：广东省人口和计划生育委员会2013年科研项目(20133016);东莞市科技局课题(201510510100750)

摘　　要：目的调查东莞地区参加孕前优生健康检查新婚夫妇地中海贫血的基因携带率、基因突变类型及其分布特征,为制定有效可行的人群地贫防控计划奠定基础。方法选择参加东莞市免费孕前优生健康检查的新婚夫妇39 000对,首先以平均红细胞容积(MCV)和红细胞脆性(一管法)进行地中海贫血的筛查。对筛查阳性者进一步进行α、β地中海贫血基因诊断分析,对携带同型地中海贫血基因的待孕夫妇进行优生咨询指导,重点跟踪随访。结果 39 000对新婚夫妇中,地贫基因总携带率为10.70%,其中α-地贫基因携带率为7.19%,β-地贫基因携带率为3.51%,α-和β-地贫基因双重杂合子检出率为0.28%;检出3种缺失型α-地贫基因的构成比依次为67.37 0%(-SEA)、16.39%(-α3.7)、6.92%(-α4.2),检出11种β地贫基因突变类型,其中β地中海贫血主要类型为CD41-42(-TTCT)(43.32%)、IVS-Ⅱ-654(C→T)(23.78%)、-28(A→G)(14.35%)、CD17(A→T)(9.01%),共占突变基因的90.46%。结论东莞地区是地贫高发区,人群携带率也较高,本研究对东莞户籍新婚夫待孕夫妇常见的地贫基因的发生率和基因类型进行详细的分析,并对携带同型地中海贫血基因的待孕夫妇进行遗传咨询,对高风险夫妇免费进行产前诊断,能有效地降低东莞地区重型地贫儿发生率。Objective To survey gene carrying rate, gene mutation types, and distribution characteristics of thalassemia among newlymarried couples receiving pre-pregnaney health examination in Dongguan area, lay a foundation for making effective and feasible crowd prevention and control plan for thalassemia. Methods A total of 39 000 couples receiving free pre-pregnancy health examination in Dongguan city were selected. Thalassemia screening was conducted by mean corpuscular volume （MCV） test and erythrocyte fragility test （one tube method）, then further gene diagnosis and analysis of α-thalassemia and β-thalassemia were conducted among the positive cases, eugenic counseling and close follow-up were performed among the couples to be pregnant carrying the same type of thalassemia gene. Results Among 39 000 newly-married couples, the total carrying rate of thalassemia gene was 10. 70% , the carrying rates of α-thalassemia gene, β- thalassemia gene, double heterozygote of α- thalassemia gene and β- thalassemia gene were 7. 19%, 3.51%, and 0. 28 %, respectively. The proportions of three types of deletional α-thalassemia gene were 67. 37 0% （ -SEA）, 16. 39% （ -α3.7）, and 6. 92% （-α4. 2）, respectively. Eleven types of β-thalassemia gene were detected, the main types were CD41-42 （-TTCT） （43.32%） , IVS- Ⅱ-654 （C →T） （23.78%）, -28 （A→G） （ 14. 35% ）, and CD17 （A→T） （9. 01% ）, which accounted for 90. 46%. Conclusion The incidence rate of thalassemia is high in Dongguan area, and the carrying rate is high. This study analyzed the incidence rate and types of common thalassemia gene among newly-married couples to be pregnant in Dongguan area, conducted genetic counseling among the couples to be pregnant carrying the same type of thalassemia gene, carried out free prenatal diagnosis for the couples with high risk of thalassemia, all the measures reduce the incidence rate of severe thalassemia children in Dongguan area effectively.

关 键 词：地中海贫血 筛查 基因诊断 

分 类 号：R715[医药卫生—妇产科学]