A New Α1-Globin Variant, Hb Ormylia [ HBA1 :C.63c > G; P.his21gln]. Report of Eleven Cases in Northern Greece

The first identification of a novel alpha 1-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 alpha 1 gene (His > Gln). The new variant has been named Hb Ormylia and this is the first description of this genetic variant of alpha 1 gene in the literature.