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目的调查南宁市农村育龄人群β地中海贫血(地贫)基因携带率,确定四种检测系统诊断β地贫的血红蛋白 A_2(HbA_2)截断值。方法高效液相色谱法(HPLC)检测育龄青年2 044名,其中430例(地贫筛查中随机选择的75对夫妇以及血细胞分析提示夫妇双方或一方为地贫表型阳性的育龄青年280例)同步进行地贫基因分析和3种碱性电泳法[法国 Sebia 全自动电泳系统(Sebia)、国产 Sang Te 全自动电泳系统(Sang Te)和 pH8.6醋酸纤维膜电泳法(pH8.6)]的检测,以基因分析结果为金标准通过受试者工作曲线(ROC 曲线)确定 HPLC 和3种碱性电泳法诊断β地贫的HbA_2截断值。结果在2 044名育龄青年中检出β地贫163例,携带率为7.97%,随机选择的75对夫妇地贫基因分析确诊的β地贫为13例,携带率为8.67%。诊断β地贫杂合子的 HbA2截断值分别为 HPLC≥4.35%、Sebia≥3.65%,Sang Te≥4.58%,pH8.6≥2.66%。结论南宁农村育龄人群β地贫基因携带率高,HbA_2检测结果有人种差异,应重新通过 ROC 曲线确定截断值,β地贫筛查尽量不使用 pH8.6醋酸纤维膜电泳法。
Objective To investigate the prevalence of β thalassemia gene in rural children of childbearing age in Nanning and to determine the cutoff value of hemoglobin A_2 (HbA_2) in β thalassemia patients by four detection systems. Methods A total of 2 044 young people of childbearing age were tested by high performance liquid chromatography (HPLC). Among them, 430 were randomly selected from 75 couples in the screening of thalassemia and blood cell analysis suggested 280 couples of reproductive age with thalassemia subtypes ) Simultaneous thalassemia gene analysis and three alkaline electrophoresis methods (Sebia, France Sang Te, Sang Te and pH 8.6 cellulose acetate membrane electrophoresis (pH 8.6) ], The HbA 2 cutoff value of β thalassemia was determined by HPLC and three kinds of alkaline electrophoresis through the receiver operating curve (ROC curve) based on the gene analysis result as the gold standard. Results A total of 163 cases of β-thalassemia were detected in 2 044 adolescents of childbearing age with a carriage rate of 7.97%. Among them, 13 cases of β-thalassemia were diagnosed by randomly selected 75 couples of thalassemia gene carriers with a carriage rate of 8.67%. The HbA2 cutoff values of β thalassemia heterozygotes were HPLC≥4.35%, Sebia≥3.65%, Sang Te≥4.58%, pH8.6≥2.66%, respectively. CONCLUSIONS: The carrier rate of β thalassemia gene is very high in childbearing population of rural areas of Nanning. There are racial differences in the detection results of HbA_2. The cut-off value should be determined again by ROC curve. The screening of β thalassemia should be done without using pH8.6 acetate membrane electrophoresis.