Waneesorn Jarurin, Panyasai Sitthichai, Kongthai Kanyakan, Singboottra Panthong, Pornprasert Sakorn
Regional Medical Sciences Center, Chiang-Mai, Thailand.
Hemoglobin. 2011;35(4):338-45. doi: 10.3109/03630269.2011.588140.
Hb Constant Spring [Hb CS; α142, Term→Gln (TAA>CAA in α2)] is often missed by routine laboratory testing since its mRNA as well as gene product are unstable and presented at a low level in peripheral blood. This study aimed to analyze the efficacy of capillary electrophoresis (CE) and high performance liquid chromatography (HPLC) for detecting and quantifying Hb CS in 19 heterozygotes and 14 homozygotes with Hb CS as well as 10 Hb H-CS disease subjects who were detected by molecular analysis. In the CE electrophoregram, Hb CS was seen at zone 2 and was observed in all samples, while the chromatogram of Hb CS peaks was found in 26.32% heterozygotes, 42.86% homozygotes and 90% Hb H-CS disease subjects, respectively. In addition, the Hb CS levels in each group of subjects quantified by CE were significantly higher than those quantified by HPLC. Based on the CE method, the lowest Hb CS level was found in the heterozygotes, whereas the highest level was found in the Hb H-CS disease patients. Therefore, the CE method was superior to the HPLC method for detecting Hb CS. Furthermore, the level of Hb CS quantified by CE proved useful in screening heterozygotes and homozygotes with Hb CS as well as Hb H-CS disease.
血红蛋白恒春型[Hb CS;α142,终止密码子→谷氨酰胺(α2基因中TAA>CAA)]常因其实时定量mRNA以及基因产物不稳定且在外周血中水平较低而被常规实验室检测漏检。本研究旨在分析毛细管电泳(CE)和高效液相色谱(HPLC)检测和定量19例Hb CS杂合子、14例Hb CS纯合子以及10例经分子分析检测出的Hb H-CS病患者中Hb CS的效果。在CE电泳图中,Hb CS出现在第2区且在所有样本中均能观察到,而Hb CS峰的色谱图分别在26.32%的杂合子、42.86%的纯合子和90%的Hb H-CS病患者中被发现。此外,通过CE定量的每组受试者中的Hb CS水平显著高于通过HPLC定量的水平。基于CE方法,杂合子中的Hb CS水平最低,而Hb H-CS病患者中的水平最高。因此,CE方法在检测Hb CS方面优于HPLC方法。此外,通过CE定量的Hb CS水平被证明有助于筛查Hb CS杂合子、纯合子以及Hb H-CS病患者。