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]

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

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

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