7842对孕前优生夫妇地中海贫血筛查情况分析

Analysis of screening of thalassanemia in 7842 couples with progestational aristogenesis

目的了解佛山市三水区孕前优生健康检查对象地中海贫血发病情况,为制定降低出生缺陷发生率干预措施提供理论依据。方法对自2013年9月~2014年9月三水区7842对孕前优生夫妇进行地中海贫血筛查,初筛指标包括平均红细胞体积（MCV）、平均红细胞血红蛋白含量（MCH）,初筛异常者进行地中海贫血基因检查。结果地中海贫血初筛阳性1563人,占9.96%;夫妇双方地贫筛查阳性进一步地贫基因检查66对,筛查阳性夫妇基因检查确诊率为84.85%。结论广东是地中海贫血的高发地区,孕前对地中海贫血进行筛查可以降低地中海贫血新生儿的发生率,对降低出生缺陷、避免中重度地中海贫血患儿出生、提高人口质量有极其重要的现实意义,应该加大宣传力度,提高人群的健康筛查意识,为优生优育计划提供强劲的支撑。

Objective To understand the thalassanemia incidence of progestational aristogenesis in health examination objects of Sanshui District in Foshan City, in order to provide the theoretical basis to formulate intervention measures to reduce the incidence of birth defects. Methods 7842 couples with progestational aristogenesis were screened on thalassanemia in Sanshui District from September 2013 to September 2014, with the indexes of preliminary screening of mean corpuscular volume （MCV） and mean corpuscular hemoglobin （MCH）, while abnormal patients of preliminary screening were made with gene examination of thalassanemia.ResultsThe positive of preliminary screening of thalassanemia was 1563 patients（9.96%）, 66 couples with positive of preliminary screening were made with gene examination of thalassanemia, while the diagnosis rate of gene examination in couples with positive of preliminary screening was 84.85%.ConclusionGuangdong is high prevalence area of thalassanemia. Progestational screening of thalassanemia could reduce the incidence of thalassanemia in newborns, has extremely important practical significance to reduce birth defects, to avoid the birth of children with moderate or severe thalassanemia, and to improve the population quality, should be vigorously propagandized to improve people＇s consciousness of health screening and to provide forceful support for prepotent plan.