阳江地区8867例妊娠妇女地中海贫血筛查结果分析

ANALYSIS OF THE OUTCOMES OF THALASSEMIA SCREENING IN 8867 PREGNANT WOMEN OF YANGJIANG REGION

目的开展妊娠妇女地中海贫血(以下简称地贫)筛查项目,了解本地区地贫的发病情况,降低重度地贫儿出生率,提高出生人口素质。方法对本院2008年7月～2010年12月产前门诊共8 867例孕妇进行血常规五分类检测,对怀疑地贫者进行地贫PCR基因分析,夫妇双方同为α-地贫或β-地贫携带者建议做产前诊断。结果筛查出地贫携带者1 049例,检出率为11.83%。其中α-地贫携带者842例,检出率为9.49%;β-地贫携带者203例,检出率为2.28%;α-地贫复合β-地贫者4例,检出率为0.04%。有173例孕妇接受产前诊断,检测出重型地贫儿24例。结论阳江地区是地贫高发区,通过对本地区妊娠妇女进行产前筛查与产前诊断,对重度地贫儿及早发现、及时引产,有效降低重度地贫儿出生率,对提高出生人口素质有重要意义。

Objective To observe the incidence of thalassemia by carrying out the antenatal screening test aimed to reduce the birth rate of severe thalassemia fetal, and improve the population quality. Methods 8867 preg- nant women were retrospectively studied by Blood routine test, at the Antenatal clinic from June 2008 to December 2010. Those who were suspected to be thalassemia had further genetic analysis. If the couples coincide to be the same type of thalassemia, prenatal diagnosis should be recommended. Results Totally 1049 carrier were found out, with positive rate of 11.83 %. Among them 842 cases were α - thalassemia, with positive rate of 9.49%, 203 cases were - thalassemia, with positive rate of 2.28%, and 4 cases were α combine β, with positive rate of 0.04%. Prenatal diagnoses were accepted by 173 pregnant women, and 24 cases of severe thalassemia were diagnosed. Conclusion The incidence of thalassemia was extremely widespread in Yangjinag region. Antenatal screening test can help us di- agnose the severe thalassemia and terminate the pregnancy in time. It can reduce the birth rate of severe thalassemia, and play a significant role in improving the population quality.