title: Development of a capillary zone electrophoresis method for rapid determination of human globin chains in α and β-thalassemia subjects.
abstract: 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.
authors.affiliation: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, Guangdong, PR China.
authors.forename: Li
authors.initials: L
authors.lastname: Lin
authors.affiliation: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, Guangdong, PR China.
authors.forename: Dan-Na
authors.initials: DN
authors.lastname: Chen
authors.affiliation: Department of Birth Health and Heredity, Guigang Women and Children Care Hospital, Guigang 537000, Guangxi, PR China.
authors.forename: Jing
authors.initials: J
authors.lastname: Guo
authors.affiliation: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, Guangdong, PR China.
authors.forename: Wan-Jun
authors.initials: WJ
authors.lastname: Zhou
authors.affiliation: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, Guangdong, PR China. Electronic address: xixm@smu.edu.cn.
authors.forename: Xiang-Min
authors.initials: XM
authors.lastname: Xu
mesh_terms: D016022:Case-Control Studies; D019075:Electrophoresis, Capillary / Q000379:methods*; D006447:Hemoglobin H / Q000302:isolation & purification; D006455:Hemoglobins, Abnormal / Q000302:isolation & purification; D006801:Humans; D012680:Sensitivity and Specificity; D055542:alpha-Globins / Q000302:isolation & purification*; D017085:alpha-Thalassemia / Q000097:blood / Q000175:diagnosis*; D055544:beta-Globins / Q000302:isolation & purification*; D017086:beta-Thalassemia / Q000097:blood / Q000175:diagnosis*
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; D055544:beta-Globins; C043216:hemoglobin Chinese; C056329:Hemoglobin Westmead; D006447:Hemoglobin H
keywords: Capillary zone electrophoresis; Hemoglobinopathies; Human globin chain