广西来宾市少数民族贫困地区2011年地中海贫血筛查分析

Interventional measure in screening thalassemia in population of minority poverty area in Laibin City in 2011

目的降低来宾市"地中海贫血"(以下简称地贫)发生率,减少岀生缺陷发生,提高岀生人口素质。方法通过免费婚检、产检平台对来宾市男女双方地贫基因携带者进行基因诊断、跟踪,怀孕时进行胎儿地贫筛查诊断,发现重型地贫胎儿建议孕妇及时终止妊娠。结果来宾市婚检率、产检率逐年上升,分别由2008年的46.36%和94.14%上升到2011年的94.85%和98.45%;地贫筛查人数也逐年增加,筛查率明显提高;而岀生缺陷发生率逐年下降,从2007年的19.13‰下降到2011年的9.51‰。2011年检岀重型地贫胎儿24例、中间型地贫胎儿14例,轻型地贫胎儿107例。其中24例重型地贫胎儿已全部釆取终止妊娠措施;另有1例α地贫中间型地贫胎儿也釆取了终止妊娠措施,有效减少了地贫胎儿岀生。结论利用免费婚检、产检平台,筛查地贫基因携带者,并且对其进行跟踪,对怀孕者的胎儿进行地贫筛查和基因诊断,发现重型地贫胎儿及时采取终止妊娠,是避免地贫儿岀生、降低岀生缺陷发生率的有效措施。

Objective To reduce the incidence of thalassemia and birth defect by free antemarital examination and prenatal test. Methods The screening of thalassemia in population of Laibin city through free marriage examination and prenatal test was carried out. Gene diagnosis and tracking were performed on both male and female thalassemia gene carriers. Pregnant women were suggested to terminate the pregnancy when fetus with severe thalassemia was found. Results The rates of marriage examination and prenatal test rosed from 46.36% and 94.14% in 2008 to 94.85% and 98.45% in 2011, respectively. The number of people who participated in the screening of thalassemia increased annually. The rate of the screening rose while the incidence of birth defects reduced gradually from 19.13%o in 2007 to 9.51%o in 2011.24 severe cases, 14 moderate cases and 107 mild eases were detected in 2011. 24 severe cases and 1 moderate ot thalassemia case were terminated. Conclusion Screening and tracking the thalassemia gene carriers through free marriage examination and prenatal test are the effective measure for detecting fetus with thalassemia and reduce the incidence of birth defects