中国儿童保健杂志 ›› 2018, Vol. 26 ›› Issue (6): 606-610.DOI: 10.11852/zgetbjzz2018-26-06-08

• 科研论著 • 上一篇    下一篇

毛细管血红蛋白电泳筛查新生儿中重度β地中海贫血截断值探讨

杨金玲, 蔡稔, 谭建强, 陈大宇, 黄丽华, 韦江艳, 兰海幽   

  1. 柳州市妇幼保健院医学遗传科,柳州市出生缺陷预防与控制重点实验室,广西 柳州 545001
  • 收稿日期:2018-01-29 发布日期:2018-06-10 出版日期:2018-06-10
  • 通讯作者: 蔡稔,E-mail:lzcairen@126.com
  • 作者简介:杨金玲(1982-),女,主管技师,医学学士,主要研究方向为新生儿疾病筛查和产前筛查。
  • 基金资助:
    国家自然科学基金项目(81360091);卫生行业科研专项项目(201202017);广西医疗卫生课题资助项目(Z2015189)

Analysis of cut-off value in screening of moderate and severe β-thalassemia by    capillary hemoglobin electrophoresis for neonates

YANG Jin-ling, CAI Ren, TAN Jian-qiang, CHEN Da-yu, HUANG Li-hua, WEI Jiang-yan, LAN Hai-you   

  1. Department of Medical Genetics,Liuzhou Maternal and Child Health Care Hospital,Liuzhou,Guangxi 545001,China
  • Received:2018-01-29 Online:2018-06-10 Published:2018-06-10
  • Contact: CAI Ren,E-mail: lzcairen@126.com

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

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

中图分类号: