Hb Sallanches [α104(G11)Cys→Tyr]: A Rare α2-Globin Chain Variant Found in the Homozygous State in Three Members of a Pakistani Family

Abstract

We have identified a rare α2-globin chain variant, Hb Sallanches [α104(G11) Cys→Tyr], in a Pakistani family having three homozygous patients with transfusion-dependent Hb H disease. This variant, previously reported in a French patient and a West Indian homozygous patient with Hb H disease, is due to a mutation at codon 104 (TGC→TAC). This is the third case of Hb Sallanches and the first case with three homozygous patients reported in Pakistan. Due to the different ethnic origins of the patients, it is very likely an independent mutation.