玉林市孕妇地中海贫血基因携带状况调查及干预  

Thalassemia gene carrying status and intervention of pregnant women in Yulin city

作　　者：李群珍[1] 黎秋波[1] 张炬光[1] 覃清华[1] 蒙斌荣[1] 张宁[1] 覃竞[1] 

机构地区：[1]广西玉林市妇幼保健院妇产科,537000

出　　处：《中国妇幼保健》2013年第23期3732-3734,共3页Maternal and Child Health Care of China

基　　金：玉林市科学研究与技术开发计划〔玉市科攻12073007〕

摘　　要：目的:了解玉林市孕妇地中海贫血基因携带状况,提出干预措施。方法:对62 719例孕妇进行地中海贫血筛查,1 260对地贫双阳夫妇进行地贫基因诊断,436例孕妇进行地贫产前诊断数据进行统计分析。结果:玉林市孕妇地中海贫血α型基因携带率为6.45%,β型地中海贫血基因携带率为3.61%。夫妇双方均为同型地中海贫血基因携带者胎儿携带地中海贫血基因检出率70.64%(308/436)。其中,24例α重型,β中间型或重型29例,10例α中间型共63例终止了妊娠,所有终止妊娠的胎儿进行基因诊断核实与产前诊断结果一致。结论:对孕妇地中海贫血筛查、基因诊断,产前胎儿基因诊断是预防重型地中海贫血胎儿活产的有效措施。Objective： To understand the status of thalassemia in Yulin area to carry the gene and proposed interventions. Methods： For thalassemia screening in 62 719 pregnant women, 1 260 were thalassemia gene diagnosis for thalassemia Shuan-gyang couples, 436 cases of pregnant women prenatal diagnosis for thalassemia data statistical analysis. Results： Thalassemia gene carrying rate of pregnant women in Yulin city was 6.45%, α,β- thalassemia gene was 3.61%. The couple were the same type of thalassemia gene carriers fetus with thalassemia gene detection rate of 70. 64% （ 308/436 ） . Among them, 24 cases of alpha beta heavy, middle or se-vere in 29 cases, 10 cases ofcdntermediate type were 63 cases of pregnancy termination of pregnancy termination, all the fetal gene diagnosis and prenatal diagnosis resulted verify. Conclusion： Anemia screening, gene diagnosis for the pregnant woman the Mediterranean, gene diag- nosis and prenatal is to prevent severe Mediterranean anemia and effective measures of fetal activity.

关 键 词：孕妇 地中海贫血 基因诊断 

分 类 号：R173[医药卫生—妇幼卫生保健]