The Mutation Associated with Hb Peterborough [β111(G13)Val→Phe] Originated from Southern Italy

Abstract

Hb Peterborough [β111(G13)Val→Phe], an unstable hemoglobin variant with low oxygen affinity, was first described in two patients of Italian origin. This paper reports the first observation of this variant in Campania, Southern Italy, in two unrelated patients suffering from mild anemia. The variant was separated from Hb A by cation exchange chromatography on a high performance liquid chromatographic system with an automated procedure that might be useful for diagnostic purposes. The amino acid replacement, Val→Phe at β111, was assessed by tandem electrospray mass spectrometry analysis, and the corresponding DNA mutation was established as G→T at the first position of codon 111 (GTC→JTC) by polymerase chain reaction amplification techniques. A family study showed that the two original carriers of Hb Peterborough were members of the same family as the proband examined in this study. This finding, and the presence of a second unrelated family carrying Hb Peterborough in Campania, strongly suggests that the DNA mutation associated with this variant originated in Southern Italy.