Abstract: Objective To analyze the characteristics of capillary hemoglobin electrophoresis in neonates,and to determine the cut-off values of hemoglobin for moderate and severe β-thalassemia screening in neonates. Methods Retrospective analysis was performed on the results of capillary hemoglobin electrophoresis and genetic testing for 1 020 neonates. Neonates were assigned to 6 groups according to the gestational age at birth and the genetic testing results,and the HbA and HbF levels in each group were analyzed. The cut-off values for screening for moderate and severe β-thalassemia in neonates were determined using receiver operating characteristics (ROC) curve. Results HbA level was lower in moderate and severe β-thalassemia group than that in any other groups except the abnormal hemoglobin group (P<0.05); HbF level was higher in moderate and severe β-thalassemia group than that in any other groups(P<0.001). The area under curve (AUC) for HbA screening for moderate and severe β-thalassemia in neonates was 0.993,which was greater than 0.697 of HbF screening. The sensitivity and specificity of HbA cut-off values (2.35%) were 100% and 99.0%,respectively. Conclusions The cut-off value of HbA for capillary hemoglobin electrophoresis screening for moderate and severe β-thalassemia in neonates is 2.35%; Based on the cut-off value of HbA for capillary hemoglobin electrophoresis,HbF level and hemoglobin electrophoretograms could further reduce false positives.

Key words: capillary hemoglobin electrophoresis, neonates, moderate and severe β-thalassemia, HbA, cut-off value

摘要： 目的 分析新生儿毛细管血红蛋白电泳特点,探讨筛查新生儿中重度β地中海贫血的(地贫)截断值。方法 回顾性分析1 020例新生儿毛细管血红蛋白电泳结果与β地中海贫血基因检测结果。根据出生胎龄及基因结果分为6组,分析各组HbA和HbF含量。通过受试者工作曲线(ROC)确定筛查新生儿中重度β地中海贫血的截断值。结果 除异常血红蛋白组外,中重度β地贫组HbA含量低于其它各组(P＜0.05);中重度β地贫组HbF含量高于其它各组(P＜0.001)。HbA筛查新生儿中重度β地贫曲线下面积( AUC)为0.993,大于HbF的AUC 0.697。当HbA截断值为2.35%时,灵敏度为100%,特异度为99.0%。结论 毛细管血红蛋白电泳筛查新生儿中重度β地中海贫血HbA的截断值为2.35%;结合分析HbF含量及血红蛋白图谱分析可以进一步降低假阳性。

关键词: 毛细管血红蛋白电泳, 新生儿, 中重度β地中海贫血, HbA, 截断值