Detection of coinherited Hb H-constant spring/Paksé disease and Hb e by capillary electrophoresis and high performance liquid chromatography

Abstract

A capillary electrophoresis (CE) method has been proven to be superior to a high performance liquid chromatography (HPLC) method in the detection of Hb H-Constant Spring/Paksé [Hb H (β4) Hb CS or α142, Term→Gln, TAA>CAA (α2)]/Paksé [α142, Term→Tyr, TAA>TAT (α2)]. It also has the ability to quantify Hb Bart's (γ4). The aim of this study is to analyze the efficacy of the CE and HPLC in the detection of Hb H (β4)-CS/Paksé-E [β26(B8)Glu→Lys, GAG>AAG] disease. The laboratory results from July 2009 to July 2012 were reviewed at the Thalassemia Laboratory of the Associated Medical Sciences Clinical Service Center, Chiang-Mai University, Chiang-Mai, Thailand. The HPLC or CE method was used for the diagnosis of β-thalassemia (β-thal) and hemoglobinopathies, and molecular analysis was used for the diagnosis of α-thalassemia-1 (α-thal-1) Southeast Asian (SEA) and Thai type deletions, Hb CS and Hb Paksé. Hb H-CS-E was found in six samples and Hb H-Paksé-E was found in one sample, respectively. On the capillary electrophoregram, peaks of Hb Bart's and Hb CS/Paksé were observed in all samples with the mean levels at 2.4 and 1.0%, respectively. These peaks were also presented on the HPLC chromatogram. However, the Hb CS/Paksé level could be quantified in only three of these seven (43.0%) samples. Therefore, CE was proven to be superior to HPLC in the detection of Hb H-CS/Paksé-E disease, which will assist in diagnostic, counseling and prevention programs for these diseases. © 2013 Informa Healthcare USA, Inc.