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

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

© 2018 Informa UK Limited, trading as Taylor & Francis Group. 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-Thailandallele with other globin gene disorders...

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Main Authors: Sitthichai Panyasai, Surada Satthakarn, Sakorn Pornprasert
Format: Journal
Published: 2018
Subjects:
Biochemistry, Genetics and Molecular Biology
Medicine
Online Access:https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85042919270&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/58310
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Institution: Chiang Mai University
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spelling th-cmuir.6653943832-583102018-09-05T04:36:21Z Complex Interaction of Hb Q-Thailand (HBA1: c.223G>C) with β-Thalassemia/Hb E (HBB: c.79G>A) Disease Sitthichai Panyasai Surada Satthakarn Sakorn Pornprasert Biochemistry, Genetics and Molecular Biology Medicine © 2018 Informa UK Limited, trading as Taylor & Francis Group. 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-Thailandallele 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. 2018-09-05T04:22:32Z 2018-09-05T04:22:32Z 2018-01-02 Journal 1532432X 03630269 2-s2.0-85042919270 10.1080/03630269.2018.1430587 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85042919270&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/58310
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
topic Biochemistry, Genetics and Molecular Biology
Medicine
spellingShingle Biochemistry, Genetics and Molecular Biology
Medicine
Sitthichai Panyasai
Surada Satthakarn
Sakorn Pornprasert
Complex Interaction of Hb Q-Thailand (HBA1: c.223G>C) with β-Thalassemia/Hb E (HBB: c.79G>A) Disease
description © 2018 Informa UK Limited, trading as Taylor & Francis Group. 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-Thailandallele 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.
format Journal
author Sitthichai Panyasai
Surada Satthakarn
Sakorn Pornprasert
author_facet Sitthichai Panyasai
Surada Satthakarn
Sakorn Pornprasert
author_sort Sitthichai Panyasai
title Complex Interaction of Hb Q-Thailand (HBA1: c.223G>C) with β-Thalassemia/Hb E (HBB: c.79G>A) Disease
title_short Complex Interaction of Hb Q-Thailand (HBA1: c.223G>C) with β-Thalassemia/Hb E (HBB: c.79G>A) Disease
title_full Complex Interaction of Hb Q-Thailand (HBA1: c.223G>C) with β-Thalassemia/Hb E (HBB: c.79G>A) Disease
title_fullStr Complex Interaction of Hb Q-Thailand (HBA1: c.223G>C) with β-Thalassemia/Hb E (HBB: c.79G>A) Disease
title_full_unstemmed Complex Interaction of Hb Q-Thailand (HBA1: c.223G>C) with β-Thalassemia/Hb E (HBB: c.79G>A) Disease
title_sort complex interaction of hb q-thailand (hba1: c.223g>c) with β-thalassemia/hb e (hbb: c.79g>a) disease
publishDate 2018
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85042919270&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/58310
_version_ 1681425041465540608

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