广东医学Issue(10)：1502-1505,4.
毛细管电泳在新生儿β-地中海贫血筛查中的应用
Application of capillary electrophoresis for screening of the β-thalassemia in neonates
罗秋月 1秦丹卿 2尹爱华 2张春一 3聂川 3张小庄3
作者信息
- 1. 广州医科大学附属广东省妇儿医院新生儿科 广州 511442
- 2. 广东省妇幼保健院 医学遗传中心 广州511442
- 3. 广东省妇幼保健院 新生儿科 广州511442
- 折叠
摘要
Abstract
Objective To investigate the prevalence of β-thalassemia in neonates of Guangdong Province and to evaluate the feasibility and the best cut -off value of hemoglobin A ( Hb A) by capillary electrophoresis ( CE) system for screening β-thalassemia in neonates .Methods A total of 13 396 neonate cord blood samples were collected from 21 cities of Guangdong Province .Hemoglobin fractions and quantification were performed by Sebia automated capillary elec -trophoresis .Molecular analysis of the β-goblin genes was carried out for all the samples as gold standard , while 17 com-mon point mutations of β-thalassemia were examined by a suspension array system .Receiver operating characteristic curve (ROC curve) analysis was utilized to illustrate the screening performance of the percentage of Hb A , and to obtain the best cut-off value of Hb A .Results Among the 13 396 cord blood samples selected , 500 neonates were diagnosed asβ-thalassemia and the carrier rate was 3.73%.The cut-off value of percentage of Hb A was 13%, with the sensitivity of 98.4%and the specificity of 76.2%.Conclusion The prevalence of β-thalassemia is high in Guangdong Province . CE is suitable for screening β-thalassemia in neonates , and the best cut -off value of Hb A is 13.0%.关键词
血红蛋白A/脐血/β-地中海贫血/ROC曲线Key words
hemoglobin A/cord blood/β-thalassemia/receiver operating characteristic curve引用本文复制引用
罗秋月,秦丹卿,尹爱华,张春一,聂川,张小庄..毛细管电泳在新生儿β-地中海贫血筛查中的应用[J].广东医学,2014,(10):1502-1505,4.
