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

Hemoglobin
Sitthichai PanyasaiSakorn Pornprasert

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 αQ-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.

References

Feb 8, 2005·European Journal of Haematology·Kanokwan SanchaisuriyaYossombat Changtrakun
Jun 3, 2009·International Journal of Laboratory Hematology·P Van DelftP C Giordano
Jul 10, 2010·Blood Cells, Molecules & Diseases·Sanita SingsananSupan Fucharoen
Apr 7, 2011·Molecular Medicine Reports·Chaohui HuQingyi Zhu
Apr 1, 2015·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·Sakorn Pornprasert, Manoo Punyamung

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Citations

Oct 1, 2020·The Journal of Applied Laboratory Medicine·Neil S HarrisDavid H K Chui

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