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目的探索适用于农村地中海贫血(thalassemia,地贫)的筛查模式。方法对南宁市郊农村750对育龄夫妇行血常规检测,平均红细胞体积(mean cell volume,MCV)下降者定义为地贫表型阳性。夫妇一方或双方地贫表型阳性者联合酶联免疫吸附剂测定(enzyme-linked immunosorbent assay,ELISA)法检测Zeta链和国产电泳仪行血红蛋白电泳,与地贫基因结果进行比对。结果 750对育龄夫妇中,261对(34.8%)夫妇任一方地贫表型阳性,接受Zeta链和血红蛋白电泳检测。97对夫妇一方HbA2增高者行β地贫基因检测,检出4对(0.41%)β地贫高危夫妇,即夫妻双方均携带β地贫基因,电泳结果与基因检测结果一致。α地贫基因检测结果表明,119例(22.7%)受试者携带--SEA。Zeta链诊断--SEA的漏诊率为5.9%(7例,其中5例为HbH病患者),误诊率为0.5%(2例)。以夫妇双方任一方Zeta阳性为标准,11对α地贫高危夫妇均可筛查出。结论ELISA法检测Zeta链联合血红蛋白电泳法是一种有效、经济、方便、易于在农村地区应用的地贫筛查模式。
Objective To explore a suitable screening model for thalassemia in thalassemia. Methods Blood samples were collected from 750 fertile couples in rural areas of Nanning. The mean reduction of mean cell volume (MCV) was defined as thalassemia positive. Zeta chain and domestic electrophoresis apparatus were tested for hemoglobin electrophoresis by ELISA (enzyme-linked immunosorbent assay) method, and the results were compared with that of thalassemia gene. Results Of the 750 pairs of couples of childbearing age, 261 (34.8%) couples had thalassemia phenotype positive and were subjected to Zeta-chain and hemoglobin electrophoresis. Ninety-seven couples (0.41%) with high-risk β-thalassemia were detected in those with elevated HbA2 on one side of the couple, both of whom carried β-thalassemia gene. The results of the electrophoresis were consistent with those of the gene test. α thalassemia gene test results showed that 119 cases (22.7%) subjects carrying - SEA. Misdiagnosis rate was 0.5% (2 cases) in Zeta chain diagnosis - the missed diagnosis rate of SEA was 5.9% (7 cases, 5 cases were HbH patients). Zeta-positive to either side of the couple as the standard, 11 pairs of α-thalassemia high-risk couples were screened. Conclusion The ELISA method of Zeta-linked hemoglobin electrophoresis is an effective, economical, convenient and easy to use thalassemia screening model in rural areas.