A new α chain variant Hb Sallanches [α2 104(G11) Cys→Tyr] associated with HbH disease in one homozygous patient

Abstract

We identified a new alpha-chain variant (alpha Sal) associated with haemolytic anaemia and low level of HbH in one homozygous patient. This new mutation is located in codon 104 (TGC-->TAC) of the alpha 2 globin gene and results in a Cys-->Tyr replacement. In vitro and in vivo biosynthetic studies suggest that the mechanism leading to HbH disease in this homozygous patient is mostly related to a significant instability of alpha Sal:beta dimers rather than to the hyperinstability of the alpha Sal chain itself only.