Effective screening of hemoglobin Constant Spring and hemoglobin Paksé with several forms of α- and β-thalassemia in an area with a high prevalence and heterogeneity of thalassemia using capillary electrophoresis

Abstract

Background and aimsWe aimed to evaluate the efficiency of identification and quantification of hemoglobin (Hb) Constant Spring (CS) and Hb Paksé by capillary electrophoresis (CE). Materials and methodsBlood samples collected from 2057 patients were used for identifying and quantifying Hb by CE. Molecular analysis of α- and β-thalassemia, Hb CS, and Hb Paksé was performed. ResultsHb CS and Hb Paksé were identified in 573 samples (27.86%) with diverse genotypes. Thirty-eight samples (6.6%) showed no Hb CS peak. The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of Hb CS by CE were 93.37, 95.96, 89.92, 97.40, and 95.24%, respectively. The amount of Hb CS in those carrying Hb CS was 0.2–6.5% which showed an increasing trend according to the number of defective α-globin genes, in contrast to Hb A2 levels, which decreased. Hb CS level ≥1.0% accurately excluded heterozygotes and that of ≥2.0% could identify homozygotes. ConclusionCE has the high potential for identifying and quantifying Hb CS and Hb Paksé, especially in an area with a high prevalence of thalassemia. Hb CS levels can be used as a potential marker to distinguish the genotype of individuals carrying Hb CS.