中文摘要：

目的：评价百色市试点县（区）地中海贫血防控计划实施的效果。方法：在人口计生和卫生两大部门的地贫宣教、地贫筛查基础上项目试点县2010～2011年共有1926对（3852例）夫妇中因地贫筛查阳性（单方或双方）而转诊本院地贫产前诊断中心进一步确诊、遗传咨询和产前诊断。结果：共有2376（28。5％）例地贫筛查阳性，1721（44．7％）例进行了地贫基因检测，其中70．2％（1208／1721）发现有地贫基因异常；本组检测3442条染色体，其中α地贫基因频率为25．3％，各类α突变等位基因依次为：--SEA〉-3．7〉α^ CS〉α^WS〉-4．2〉α^QS〉-Thai；β地贫基因频率为16．1％，各类突变等位基因依次为：17M〉41—42M〉71—72M，β^E〉-28M〉IVS-1〉654M〉29M〉CapM；高危地贫夫妇254对，其中进行产前诊断203对（79．9％），诊断高危地贫胎儿60例（29．6％），有50例终止妊娠，部分中间型仅地贫胎儿在非指令遗传咨询后选择继续妊娠。结论：通过试点县区实施地贫防治计划，开展“地贫”宣教和人群筛查并进行遗传咨询和高危地贫胎儿的产前诊断，本项目为实现广西地贫控制目标提供了值得借鉴的经验。

英文摘要：

Objective： To evaluate the effect of thalassemia intervention program for pilot counties in Baise. Methods： The thalas- semia education and screening were implemented by two government departments of Population ＆ Family Planning and Health Systems for pi- lot counties in Baise City from January 2010 to December 2011. The 1 926 couples （3 852 cases） had positive screening test （both spouses positive or one spouse positive） and were transferd to the sub - centers of prenatal diagnosis for thalassemia in our hospital for confirmed diag- nosis, genetic counseling and prenatal diagnosis. Results： A total of 2 376 （28. 5% ） cases got positive thalassemia screening results. 1 721/ 3 852 （44. 7% ） cases had genetic testing; 1 208/1 721 （70. 2% ） cases were found with thalassemia genetic abnormality. Of 3 442 chromo- somes detected in our study, 25.3 % were α - thalassemia gene abnormality and the various types of α - mutant alleles were ： - - SEA 〉 - 3.7 〉 αcs 〉 αws 〉 -4. 2 〉 αQs 〉 -Thai; 16. 1% were β -thalassemia gene abnormality and the various types of 13 -mutant alleles were： 17M 〉 41 - 42M 〉 71 - 72M , 13E 〉 - 28M 〉 IVS - 1 〉 654M 〉 29M 〉 CapM. Of 254 high - risk thalassemia couples, the prenatal di- agnosis were made in 203/254 （79. 9% ） couples; Of 60 （29.6%） cases with high - risk thalassemia fetus, 50 fetuses were terminated of pregnancy. Part of the intermediate α - thalassemia fetus were chosen to continue the pregnancy after non - directive genetic counseling. Conclusion： Thalassemia prevention program in Baise City, which the thalassemia education, screening , genetic counseling and prenatal diagnosis has been carried out in pilot counties for two consecutive years, provides valuable experience to achieve the target of Guan- gxi thalassemia program.