目的 探讨滤纸干血片毛细管电泳技术在新生儿β-地中海贫血(简称β-地贫)筛查中的应用价值.方法 对2987份新生儿足跟血标本应用滤纸干血片毛细管电泳技术检测血红蛋白(Hb)A并同时做基因分析,采用四格表分析HbA对β-地贫的筛查价值.回顾性分析2012年7—12月在广东省中山市出生的180106份新生儿足跟血标本,应用滤纸干血片毛细管电泳技术检测HbA含量,对β-地贫筛查表型阳性的病例(HbA<8.6%)召回进行基因分析.结果 2987份新生儿足跟血标本中,基因确诊β-地贫携带者94例.经四格表分析,HbA<8.6%作为诊断β-地贫的切值时,其敏感性为26.60%(25/94),假阳性率为1.18%(34/2893),特异性为98.82%(2859/2893),假阴性率为73.40%(69/94),阳性预测值为42.37%(25/59),阴性预测值为97.64%(2859/2928).回顾性分析180106份新生儿足跟血滤纸干血片标本,检测出β-地贫表型阳性(HbA<8.6%)者4539例,筛查阳性率为2.52%(4539/180106);其中在召回的1149例新生儿中经基因分析确诊为β-地贫基因携带者510例,重型β-地贫16例.HbA筛查与基因确诊的符合率为45.78%(526/1149).进一步分析其临床表型与HbA含量的关系,重型β-地贫HbA含量明显低于β-地贫基因携带者,差异有统计学意义(P<0.05).结论 滤纸干血片毛细管电泳技术检测HbA在新生儿期筛查β-地贫有很高的特异性(98.82%)及阴性预测值(97.64%).可以根据HbA含量的多少初步判断β-地贫的严重程度,特别对重型β-地贫的早期筛查和诊断有很好的临床指导意义.%Objective To investigate capillary electrophoresis with dried filter blood paper in screening neonatal β-thalassemia. Methods The level of glycated hemoglobin(Hb)A was determined by capillary electrophoresis with dried filter blood paper for screening neonatalβ-thalassemia in 2987 cases of neonatal heel blood,and the genotypes were analyzed. Its role was evaluated by fourfold table analysis. A total of 180106 cases of neonatal heel blood were collected from July,2012 to December,2012 in Zhongshan. The cases of β-thalassemia positive phenotype(HbA<8.6%) were determined for genotypes. Results Among 2987 cases of neonatal heel blood,94 cases carriedβ-thalassemia gene. After fourfold table analysis,as HbA<8.6%,the sensitivity of HbA determination in diagnosing β-thalassemia was 26.60%(25/94), the false positive rate was 1.18%(34/2893),the specificity was 98.82%(2859/2893), the false negative rate was 73.40%(69/94),the positive predictive value was 42.37%(25/59),and the negative predictive value was 97.64%(2859/2928). Among 180106 cases of neonatal heel blood,4539 cases carriedβ-thalassemia gene(HbA<8.6%),and the screening positive rate was 2.52%(4539/180106). A total of 1149 suspiciouscases were called back,and 510 cases were diagnosed as β-thalassemia gene carriers,including 16 cases of serious β-thalassemia. The coincidence rate of HbA screening and gene diagnosis was 45.78%(526/1149). Furthermore,the HbA level of serious β-thalassemia cases was lower than that of β-thalassemia gene carriers(P<0.05).Conclusions HbA determination has high specificity(98.82%) and high negative predictive value(97.64%) in screening neonatal β-thalassemia by capillary electrophoresis with dried filter blood paper. HbA level can be used for judging the status of β-thalassemia primarily,screening and diagnosing serious β-thalassemia cases.
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