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Hemoglobin
international journal for hemoglobin research
Volume 35, 2011 - Issue 2
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Original Article

Hb Phimai [β72(E16)Ser→Thr]: A Novel β-Globin Structural Variant Found in Association with Hb Constant Spring in Pregnancy

Sanita Singsanan The Graduate School, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand; Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand
,
Hataichanok Srivorakun The Graduate School, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand; Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand
,
Goonnapa Fucharoen Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand
,
Rawiwan Puangplruk Regional Health Promotion Center Region 5, Nakhon Ratchasima, Thailand
&
Supan Fucharoen Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, ThailandCorrespondence[email protected]
Pages 103-110 | Received 08 Nov 2010, Accepted 29 Nov 2010, Published online: 21 Mar 2011
 
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Abstract

A Thai pregnant woman with α and β hemoglobinopathies is described. Initial hemoglobin (Hb) analysis revealed an unknown variant with a high performance liquid chromatography (HPLC) elution pattern similar to Hb Hope [β136(H14)Gly→Asp]. Subsequent DNA-based diagnostics revealed that she was a carrier of Hb Constant Spring [Hb CS, α142, TAA>CAA (α2)] and a novel β-globin chain variant [β72(E16)Ser→Thr, AGT>ACT] which we named Hb Phimai. Her hematological findings and a simple DNA test for differential diagnosis of Hb Phimai and Hb Hope are presented.

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