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

Summary. We identified a new α‐chain variant (αSal) 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 a2 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 αSal:β dimers rather than to the hyper‐instability of the αSal chain itself only.

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