The mutation associated with Hb Peterborough [beta 111(G13)Val -> Phe] originated from Southern Italy

Hb Peterborough [beta 111(G13)Val-->Phe], an unstable hemoglobin variant wi th low oxygen affinity, was first described in two patients of Italian orig in. This paper reports the first observation of this variant in Campania, S outhern Italy, in two unrelated patients suffering from mild anemia. The va riant was separated from Hb A by cation exchange chromatography on a high p erformance liquid chromatographic system with an automated procedure that m ight be useful for diagnostic purposes. The amino acid replacement, Val-->P he at beta 111, was assessed by tandem electrospray mass spectrometry analy sis, and the corresponding DNA mutation was established as G-->T at the fir st position of codon 111 (GTC-->TTC) by polymerase chain reaction amplifica tion techniques. A family study showed that the two original carriers of Hb Peterborough were members of the same family as the proband examined in th is study. This finding, and the presence of a second unrelated family carry ing Db Peterborough in Campania, strongly suggests that the DNA mutation as sociated with this variant originated in Southern Italy.