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Case Reports
. 2024 Mar;48(2):133-137.
doi: 10.1080/03630269.2024.2339517. Epub 2024 Apr 18.

A New α1-Globin Variant, Hb Ormylia [ HBA1:c.63C > G; p.His21Gln]. Report of Eleven Cases in Northern Greece

Maria Vousvouki  1 , Evangelia-Eleni Delaki  2 , Effrosyni Boutou  2 , Eleni Yfanti  2 , Genovefa Mantzou  1 , Christina Karipidou  1 , Athanasios Vyzantiadis  1 , Athina Efstathiou  1 , Maria Dimopoulou  2 , Efthymia Vlachaki  3 , Stamatia Theodoridou  1
Affiliations
Case Reports

A New α1-Globin Variant, Hb Ormylia [ HBA1:c.63C > G; p.His21Gln]. Report of Eleven Cases in Northern Greece

Maria Vousvouki et al. Hemoglobin. 2024 Mar.

Abstract

The first identification of a novel α1-Globin variant, Hb Ormylia in 11 Greeks originating from a small village, Ormylia, Chalkidiki, Greece is reported. The new genetic variant leads to the production of a hemoglobin variant that can be identified and quantified by High-Performance Liquid Chromatography. Capillary and classic electrophoresis were not informative. Direct DNA sequencing revealed a new mutation C > G mutation at codon 21 of α1 gene (His > Gln). The new variant has been named Hb Ormylia and this is the first description of this genetic variant of α1 gene in the literature.

Keywords: HPLC; Hb variants; P3 window; thalassemia.

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