百色市人口计生和卫生系统共同实施地中海贫血综合防控试点效果分析

Effect of thalassemia prevention programs for pilot counties implemented jointly by two government departments of Population & Family Planning and Health System in Baise City

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。

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.