河源地区地中海贫血筛查及基因分析

目的统计河源地区地中海贫血（简称地贫）的发病率及其类型分布情况,增强本地区人群进行地中海贫血筛查意识,提高该地区人口素质。方法对来我院行产前检查或婚前检查的育龄人群共6470例常规做地中海贫血筛查,检测项目主要是血液常规检测、红细胞渗透脆性试验和全自动琼脂糖血红蛋白电泳试验,综合三者的结果判定被筛查者是否患有地贫及其地贫类型,对其中976例地贫表型阳性者进行基因诊断试验,并对结果进行回顾性分析。结果在6470例育龄人群地中海贫血筛查中共检出各种地中海贫血携带者1545例,检出率为23.88%（1545/6470）,其中!–轻型地贫1104例、HbH病27例、＂-轻型地贫414例、异常血红蛋白病27例,基因诊断结果分析显示：!-地贫筛查的诊断符合率较低只有73.23%,而＂-地贫筛查的诊断符合率较高达95.83%。结论河源地区地中海贫血发病率高,且!-地贫明显高于＂-地贫,河源地区应加大地中海贫血筛查力度,通过合理婚配、遗传咨询及产前诊断等一系列配套措施避免重型地贫患儿的出生,对优生优育具有重要意义。

The screening and gene analysis of thalassemia in Heyuan prefecture

Objective:Researching the morbidity and genetype distribution of Thalassemia in Heyuan prefecture is to strengthen the awarness of Thalassemia screening and improve the quality of the population in this region.Methods:6470 cases of prenatal care or pre-marital check were diagnosed by routine testing of blood,RBC osmotic fragility test,hemoglobin electrophoresis experiment and so on.And then according to the results,we made a preliminary judge to know the people whether is a Thalassemia of patient or not and its type.Of which 976 cases of Thalassemia were diagnostic by PCR.Results:There were 6470 cases in 1545 samples of Thalassemia,the detection rate is 23.88%,including α-Thalassemia(1104 cases),HbH disease(27 cases),β-Thalassemia(414 cases),abnormal hemoglobin disease(27 cases).The result of PCR show that detection ratio of α-thalassemia is 73.23% and detection ratio of β-thalassemia is 95.83%.Conclusion: Detection rate of the Thalassemia in Heyuan prefecture is higher than another region,α-thalassemia is particularly highter than β-thalassemia.By this way,we should increase the intensity of Thalassemia screening and avoid the birth of children with heavy Thalassemia through rational marriage,genetic counseling,prenatal diagnosis and another measures.It is very important for prenatal and postnatal care.