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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 6 000 pairs of newly married couples with non-deletion α-thalassemia (non-deletional type α-thalassemia) test results to understand the gene carrier rate and distribution characteristics. Methods The venous blood was collected from subjects and the mean MCV of less than 79 fL was taken as the positive index of thalassemia (IIA), of which 2 891 were positive and 2 746 were negative Non-deletion alpha-thalassemia gene analysis. Results A total of 257 cases of non-deletion α-thalassemia were detected in 6 000 screening subjects. The carrying rate of non-deletion α-thalassemia gene was 2.14% (257/12 000). The common clinical non-deletion α-thalassemia were as follows: abnormal hemoglobin CS (HbCS) 1.16% (139/12 000), abnormal hemoglobin WS (HbWS) 0.83% (100/12 000), abnormal hemoglobin QS % (18/12 000). Conclusions This area is a high-incidence area of α-thalassemia. A gene analysis should be included in the screening project to provide a scientific basis for reducing births and formulating intervention programs for intermediate hereditary hemolytic anemia.