Article
A New α1-Globin Variant, Hb Ormylia [HBA1:c.63C > G; p.His21Gln]. Report of Eleven Cases in Northern Greece.
Hemoglobin - 1 Mar 2024
Vousvouki Maria, Delaki Evangelia-Eleni, Boutou Effrosyni, Yfanti Eleni, Mantzou Genovefa, Karipidou Christina, Vyzantiadis Athanasios, Efstathiou Athina, Dimopoulou Maria, Vlachaki Efthymia, Theodoridou Stamatia
Abstract excerpt
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...
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