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

Abstract

Hb Q-Thailand [α74(EF3)Asp→His (α1), GAC>CAC, 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.

Keywords:

• β-Thalassemia (β-thal)/Hb E
• capillary electrophoresis (CE)
• hemoglobinopathy
• high performance liquid chromatography (HPLC)
• Hb Q-Thailand

Acknowledgments

The authors thank the technicians at the AMS-CSC, Chiang Mai University, Chiang Mai, Thailand for their assistance. We also are grateful to Kallayanee Treesuwan (AMS-CSC, Chiang Mai University, Chiang Mai, Thailand), for editing the manuscript.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This study was supported by grant [No. RD61075] from the University of Phayao, Phayao, Thailand.