Characterization by DNA sequencing of Hb F-Columbus-GA [^Gγ94(FG1)Asp→Asn] observed in Sardinian newborn

Abstract

This article refers to the second observation of the variant Hb F-Columbus-GA in families of Sardinian origin, the first to be ascertained at the DNA level. Sequencing of the amplified GγX-globin genes in eight newborns revealed the GAC →AAC transition occurring at codon 94 (exon 2) which resulted in an Asp →Asn amino acid substitution at position FG1. This mutation thus corresponds to Hb F-Columbus-GA, already described in Georgia (USA) in a newborn of Caucasian ancestry