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.

Keywords:

• Hb F-Emirates
• ^Gγ Chain variant
• DNA sequencing
• Abnormal hemoglobin (Hb)
• Sardinia