目的探讨全自动毛细管微量血红蛋白电泳技术在新生儿β地中海贫血筛查中的应用价值,并寻求有效的筛查方法。方法使用Sebia全自动毛细管电泳仪对145904例新生儿滤纸干血斑标本进行血红蛋白(Hb)电泳;对95059例标本的电泳分析结果以HbA界值法判读β地贫筛查结果,对50845例标本的电泳分析结果以HbA值结合HbA2/HbA比值的综合分析法判读β地贫筛查结果,召回筛查阳性者进行地贫基因诊断;随机对600份标本的电泳结果同时以上述两种方法判读β地贫筛查结果,同时进行基因检测作为β地贫诊断的金标准,统计比较两种判读方法的差异。结果 HbA界值法筛查出的1580例阳性标本中经基因检测确诊为β地贫的有716例,确诊符合率45.32%,假阳性率为54.68%;综合分析法筛查出的1266例阳性标本中930例经基因检测确诊为β地贫,符合率73.46%,假阳性率为26.54%。同时对600例新生儿干血斑分析结果表明,HbA界值法和综合分析法的敏感度和特异度分别是54.55%、90.91%和97.58%、99.31%,两者的筛查准确性分别为96%和99%。统计结果表明,综合分析法的敏感度、阳性预测值和筛查的准确性显著高于HbA界值法.结论新生儿干血斑标本经毛细管血红蛋白电泳后,利用包含HbA、HbA2组分的含量及HbA2/HbA比值的综合分析法判读电泳结果,筛查新生儿β地贫,灵敏度和准确性显著提高,假阳性率明显降低,值得推广应用。 Objective To investigate the value of automatic capillary trace hemoglobin electrophoresis in the screening of beta-thalassemia in newborns, and to find an effective screening method. Methods The hemoglobin (Hb) electrophoresis was performed on 145 904 samples of dry blood spots of neonatal filter paper using Sebia automatic capillary electrophoresis. The results of electrophoresis analysis of 95 599 samples were analyzed by HbA cutoff. The results of electrophoresis analysis of HbA value combined with HbA2 / HbA ratio of comprehensive analysis of interpretation of β-thalassemia screening results, the screening of positive screening for thalassemia gene diagnosis; randomized 600 samples of the results of the above two methods interpretation β thalassemia screening results, while genetic testing as the gold standard for the diagnosis of β-thalassemia, statistical differences between the two interpretation methods. Results Among the 1580 positive specimens screened by HbA cutoff method, 716 were diagnosed as β thalassemia by gene test, the coincidence rate was 45.32% and the false positive rate was 54.68%. The 1266 positive samples screened by comprehensive analysis 930 specimens were diagnosed as beta thalassemia by gene test, the coincidence rate was 73.46%, the false positive rate was 26.54%. The results of dry blood spot analysis of 600 newborns showed that the sensitivity and specificity of HbA cutoff method and comprehensive analysis method were 54.55%, 90.91% and 97.58%, 99.31%, respectively. The screening accuracy of the two methods were 96% and 99%. The statistical results showed that the sensitivity, positive predictive value and screening accuracy of the comprehensive analysis method were significantly higher than that of the HbA cutoff method.Conclusion After capillary hemoglobin electrophoresis, the contents of HbA and HbA2 And HbA2 / HbA ratio of the comprehensive analysis of interpretation of the electrophoresis results, screening neonatal β thalassemia, sensitivity and accuracy significantly increased, the false positive rate was significantly reduced, it is worth promoting the application.