广州市番禺地区育龄人群地中海贫血检测的结果分析

目的对育龄人群进行地中海贫血筛查以预防重症地贫患儿的出生。方法对2009年1月1日至2011年12月31日本院产科门诊、婚前检查门诊的就诊者进行地中海贫血（地贫）筛查,以血常规MCV（平均红细胞体积）和/或血红蛋白电泳进行初筛,阳性者建议基因检测。结果接受电泳检查的人群中,α地贫的检出为20.3%,β地贫的检出率为11.3%,电泳与基因结果的符合率β地贫较高。结论育龄人群进行地中海贫血筛查,对优生优育,减轻社会的经济负担有重要的意义。

Analysis of thalassemia screening and gene diagnosis in childbearing couple

Objective:By screening thalassemia in childbearing couple to prevent the major thalassemia.Methods:From January 2009 to December 2011,childbearing couple of obstetrics clinic and premarriage health clinic in our hospital were screened thalassemia by routine blood test and hemoglobin electrophoresis analyses,and then confirmed by molecular analysis of Gap-PCR and reverse dot blot.Results: by hemoglobin electrophoresis,the rate of α-thalassemia was 20.3%,of β-thalassemia was 11.3%.The α and β-thalassemia consistency of hemoglobin electrophoresis and molecular was 74.5% and 93.0% respectively.Conclusion: Southern China burden high frequency of thalassemia,and childbearing couple screening and prenatal diagnosis is necessary to prevent major thalassemia.