Application of capillary electrophoresis by dried filter blood paper for screening of α-thalassemia in neonates / 国际检验医学杂志

ABSTRACT

Objective To investigate the application of capillary electrophoresis by dried filter blood paper for screening of α-thalassemia in neonates .Methods The hemoglobin (Hb) of 46 718 cases of neonatal dried heel blood spots were analyzed by the capillary electrophoresis and the content of HbA ,HbF ,HbA2 and abnormal Hb were detected ,the phenotype cases which was screened positive were recalled for genetic analysis .Results A total of 2 598 cases of Bart hemoglobin (Hb Bart′s) positive were detected in 46 718 cases of neonatal heel blood dried blood spots .The screening positive rate was 5 .56% (2 598/46 718) .A total of 477 cases of α-thalassemia gene carriers were confirmed by genetic analysis in the 544 cases which were recalled .The coincidence rate of Hb Bart′s screening and genetic diagnosis was 87 .68% (477/544) .By analyzing the relationship between the clinical pheno-types and the content of Hb Bart′s ,we found the Hb Bart′s content gradually increased with the severity of clinical phenotype ,and the difference was statistically significant (P= 0 .000) .Conclusion There is a good consistency between the capillary electrophore-sis of dried filter blood paper and the genetic analysis .It could be determined α-thalassemia clinical type according to the Hb Bart′s content .