Hb Sallanches [alpha 104(G11)Cys -> Tyr]: a rare alpha 2-globin chain variant found in the homozygous state in three members of a Pakistani family

We have identified a rare alpha 2-globin chain variant, Hb Sallanches [alph a 104(G11) Cys-->Tyr], in a Pakistani family having three homozygous patien ts with transfusion-dependent I-Ib H disease. This variant, previously repo rted in a French patient and a West Indian homozygous patient with Hb H dis ease, 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 reporte d in Pakistan. Due to the different ethnic origins of the patients, it is v ery likely an independent mutation.