摘要
目的报道6 000对新婚夫妇非缺失型α-地中海贫血(非缺失型型-α地贫)检测结果,了解其基因携带率及分布特征。方法组织受检对象抽取静脉血,以平均红细胞体积(MCV)小于79 fL为地中海贫血(下称地贫)表型阳性指标,对其中2 891例表型阳性和2 746例表型阴性样品进行非缺失型α-地贫基因分析。结果 6 000对筛查对象检出非缺失型α-地贫257例,非缺失型α-地贫基因携带率为2.14%(257/12 000)。临床常见3种非缺失型α-地贫依次为异常血红蛋白CS(HbCS)1.16%(139/12 000)、异常血红蛋白WS(HbWS)0.83%(100/12 000)、异常血红蛋白QS(HbQS)0.15%(18/12 000)。结论本地区为α-地贫高发区,应将a基因分析列入筛查项目,为降低中间型遗传性溶血性贫血病胎儿出生,制定干预方案提供科学依据。
Objective To report the test result of 6 000 pairs of couples with non-deletionα-thalassemia,and to understand the genes carrying rate and distribution characteristics.Methods The venous blood was sampled to detect the mean corpuscular volume（MCV）,and the MCV79 fL was taken as the positive indicator of thalassemia phenotype,then we analyzed the non-deletionα-thalassemia gene of 2 891 possitive cases and 2 746 negative cases.Results There were 257 cases of 6 000 pairs of couples detected non-deletionα-thalassemia,non-deletion α-thalassemia gene carrying rate was 2.14%（257/12 000）.3 common non-clinical deletion α-thalassemia were HbCS1.16%（139/12 000）,HbWS 0.83%（100/12 000）,HbQS 0.15%（18/12 000）.Conclusion The area is high incidence of α-thalassemia,a genetic analysis should be included in screening programs to reduce the birth rate of intermediate HbH disease fetus,and to provide the scientific basis for developing intervention programs.
出处
《检验医学与临床》
CAS
2011年第12期1409-1410,共2页
Laboratory Medicine and Clinic
基金
国家科技部支撑计划(2006BAI05A02)
