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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1 926对(3 852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2 376(28.5%)例地贫筛查阳性,1 721(44.7%)例进行了地贫基因检测,其中70.2%(1 208/1 721)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>αCS>αWS>-4.2>αQS>-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,βΕ>-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α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 prevention and control plan in pilot county (district) of Baise City. Methods: Based on the thalassemia education and thalassemia screening in the two departments of population and family planning and health, a total of 1 926 couples (3 852 couples) from 2010 to 2011 in the experimental pilot counties were positive for thalassemia screening (unilateral or bilateral) The referral of thalassemia prenatal diagnostic center for further diagnosis, genetic counseling and prenatal diagnosis. Results: A total of 2 376 (28.5%) cases of thalassemia were positive, and 1 721 (44.7%) cases were detected thalassemia gene. Among them, 70.2% (1 208/1 721) 3442 chromosomes, of which the frequency of α thalassemia gene was 25.3%. The alleles of all kinds of α mutations were as follows: - SEA> -3.7> αCS> αWS> -4.2> αQS> -Thai; the frequency of thalassemia gene was 16.1 %, All kinds of mutant alleles were: 17M> 41-42M> 71-72M, βE> -28M> IVS-1> 654M> 29M> CapM; (79.9%), 60 (29.6%) were diagnosed with high risk of adolescent adolescent anemia, and 50 had termination of pregnancy. Some of the fetus with intermediate α-thalassemia chose to continue pregnancy after non-instructional genetic counseling. Conclusion: Through the pilot counties and districts to implement the plan of prevention and treatment of thalassemia, to carry out the “earth leap ” mission and crowd screening and genetic counseling and prenatal diagnosis of high risk of fetus in adolescent, the project to achieve the goal of control of thalassemia in Guangxi provide worthwhile Learn from experience.