Lin Li, Chen Dan-Na, Guo Jing, Zhou Wan-Jun, Xu Xiang-Min
Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, Guangdong, PR China.
Department of Birth Health and Heredity, Guigang Women and Children Care Hospital, Guigang 537000, Guangxi, PR China.
Blood Cells Mol Dis. 2015 Jun;55(1):62-7. doi: 10.1016/j.bcmd.2015.03.003. Epub 2015 Mar 26.
Thalassemia is an inherited autosomal recessive blood disorder characterized by the underproduction of globin chains as a consequence of globin gene defects, resulting in malfunctioning red blood cells and oxygen transport. Analysis of globin chains is an important aspect of thalassemia research. In this study we developed a capillary zone electrophoresis (CZE) method for human globin determination in the diagnosis of thalassemia and hemoglobin variants. To demonstrate the utility of this approach, α/β area ratios were determined for samples from 310 thalassemia patients and healthy controls. The separation was performed on uncoated capillary with simple preparation. Distinct globin peaks were resolved in 17 min, and coefficients of variation (CV) for migration time and areas ranged from 0.37%-1.69% and 0.46%-6.71%, respectively. Receiver operating characteristic (ROC) curve analysis of the α/β area ratios gave 100% sensitivity and specificity for indicating β-TI/TM, and 100% sensitivity and 97.4% specificity for Hb H disease. Hemoglobin G-Honolulu (Hb G-Honolulu) and Hb Westmead (Hb WS) were successfully detected using this CZE method. This automated methodology is simple, rapid and cost-effective for the fast determination of human globin chains, which could be an important diagnostic tool in the field of hemoglobinopathies.
地中海贫血是一种遗传性常染色体隐性血液疾病，其特征是由于珠蛋白基因缺陷导致珠蛋白链生成不足，从而导致红细胞功能异常和氧气运输障碍。珠蛋白链分析是地中海贫血研究的一个重要方面。在本研究中，我们开发了一种毛细管区带电泳（CZE）方法，用于在地中海贫血和血红蛋白变异体诊断中测定人珠蛋白。为了证明该方法的实用性，我们测定了310例地中海贫血患者和健康对照样本的α/β面积比。分离在未涂层毛细管上进行，制备简单。在17分钟内分离出了明显的珠蛋白峰，迁移时间和面积的变异系数（CV）分别为0.37%-1.69%和0.46%-6.71%。α/β面积比的受试者工作特征（ROC）曲线分析显示，对于β-TI/TM的指示，灵敏度和特异性均为100%，对于Hb H病，灵敏度为100%，特异性为97.4%。使用这种CZE方法成功检测到了血红蛋白G-檀香山（Hb G-檀香山）和Hb Westmead（Hb WS）。这种自动化方法简单、快速且经济高效，可用于快速测定人珠蛋白链，这可能是血红蛋白病领域的一种重要诊断工具。
