Complex Interaction of Hb Q-Thailand (HBA1: c.223G>C) with β-Thalassemia/Hb E (HBB: c.79G>A) Disease. (2nd January 2018)

• Record Type: Journal Article
• Authors: Panyasai, Sitthichai; Satthakarn, Surada; Pornprasert, Sakorn
• Is Part Of: Hemoglobin. Volume 42:Number 1(2018)
• Page Start: 54
• Page End: 57
• Publication Date: 2018-01-02
• Subjects: β-Thalassemia (β-thal)/Hb E -- capillary electrophoresis (CE) -- hemoglobinopathy -- high performance liquid chromatography (HPLC) -- Hb Q-Thailand; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2018.1430587
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: Hb Q-Thailand [α74(EF3)Asp→His (α1), G AC> C AC, HBA1 : c.223G>C] is an abnormal hemoglobin (Hb) frequently found in Thailand and Southeast Asian countries. The association of the α Q-Thailand allele with other globin gene disorders has important implications in diagnosis. Here, we report how to diagnose the coinheritance of Hb Q-Thailand with β-thalassemia (β-thal)/Hb E disease in four Thai samples from high performance liquid chromatography (HPLC) and capillary electrophoresis (CE) testing results. Understanding of the HPLC chromatogram and CE electropherogram patterns of this complex mutation is important for interpretation of testing results and providing genetic counseling.