Hb Sallanches [α104(G11)Cys→Tyr, TGC→TAC (α2)]: An Unstable Hemoglobin Variant Found in an Indian Child

Abstract

We report the fourth observation of Hb Sallanches [α104(G11)Cys→Tyr, TGC→TAC (α2)], an unstable α chain variant of intermediate severity in the homozygous state. Heterozygosity occasionally produces mild hypochromia and microcytosis in some patients. A balanced β/α ratio, found in previously reported cases, points to unstable αβ dimers formed as a result of the Cys→Tyr substitution at the α1β1 contact site in this hemoglobin (Hb) variant. Our patient, and the previous two of the three cases reported in patients of Pakistani origin, points to a common population stock, separated by the mass population migration which occurred during the partition of Pakistan and India in 1947.

Keywords:

• Hb Sallanches
• Heinz body inclusions
• Indian child