Result analysis on newborn screening of α-thalassemia in Hezhou

Abstract

Objective To study the incidence of α-thalassemia in neonates through measuring the hemoglobin (Hb) Bart’s level in umbilical cord, analyze the genotypes of α-thalassemia from those neonates in Hezhou area of Guangxi and provide laboratory evidence for clinical diagnosis of α-thalassemia. Methods Using automatic hemoglobin electrophoresis device to screen cord blood specimens of 30 375 cases of neonates born in January 2014 to December 2016 in Hezhou, and performing α-thalassemia gene diagnosis of Hb Bart’s positive samples using gap-PCR and reverse dot blot(RDB). Results Among 30 375 umbilical cord blood samples, 3612 samples (11.89%) with Hb Bart’s positive were, in which there were 2172 cases (7.15%) of static type, 1215 cases (4.00%) standard type, 222 cases (0.73%) intermediate type (HbH), and 3 cases (0.01%) of heavy type. By gene analysis, 3 480 individuals of α-thalassemia genotypes were identified. The major genotypes were -αSEA/αα(72.72%), -α3.7/αα(24.40%), and-α4.2/αα(2.50%). Conclusion The study results suggest that Hb Bart’s remains an important biological indicator for clinical detection of α-thalassemia. There is a positive correlation between higher Bart’s level and gene diagnosis of α-thalassemia. The neonates with α-thalassemia genotype in Hezhou area are mainly static type. Key words: Neonate; α-thalassemia; Umbilical cord blood screening; Genotype