Hb F-Emirates [Gγ59(E3)Lys→Glu] Observed in a Family of Sardinian Ancestry and Characterized by DNA Sequencing

Abstract

Hb F-Emirates [Gγ59(E3)Lys→Glu] was first described in a newborn from the United Arab Emirates. Here we describe the occurrence of this variant in a family of Sardinian ancestry. Direct DNA sequencing analysis of the selectively amplified Gγ gene shows that the AAA→GAA transition, corresponding to a Lys→Glu substitution, is responsible for this abnormal hemoglobin (Hb). Our observation indicates a multiple origin of the mutation. In order to facilitate future studies at the level of population genetics, the structure of the entire Gγ gene that carries the mutation was assessed and compared with that of normal Gγ genes.