Application of capillary electrophoresis for screening of the β-thalassemia in neonates

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%.