Hb A₂-MONREALE [δ146(HC3)His → Arg], A NOVEL δ CHAIN VARIANT DETECTED IN WEST SICILY

Abstract

We report a novel mutation, Hb A₂-Monreale [δ146(HC3)His → Arg], detected by cation exchange high performance liquid chromatography in a family from West Sicily. The mutation is due to a CA T → CGT substitution at codon 146 of the δ-globin gene. The two carriers had reduced levels of normal Hb A₂ (1.1%), but comparable levels (0.9%) of the Hb A₂ variant. Most likely the new variant has the same characteristics as Hb Cochin-Port Royal [β146(HC3)His → Arg], that is stable but has a 75% reduction of the Bohr effect. The finding of the new variant increases the genotype heterogeneity of the δ-globin gene in the Mediterranean area, and is relevant to the study and prevention of Cooley's Anemia.