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Hb Sallanches [alpha104(G11)Cys-->Tyr]: a rare alpha2-globin chain variant found in the homozygous state in three members of a Pakistani family.

Hemoglobin - 1 Feb 2000

Khan S N, Butt F I, Riazuddin S, Galanello R

Abstract excerpt

We have identified a rare alpha2-globin chain variant, Hb Sallanches [alpha104(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...

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Identifiers

PMID: 10722113
DOI: 10.3109/03630260009002271

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Hb Sallanches [alpha104(G11)Cys-->Tyr]: a rare alpha2-globin chain variant found in the homozygous state in three members of a Pakistani family.PMID 10722113Read ↗

Homozygous Hb Sallanches [alpha104(G11)Cys-->Tyr] in a Pakistani child with Hb H disease.Semantic proximity Read ↗

Hb H disease due to homozygosity for a rare alpha2-globin variant, Hb Sallanches.Semantic proximity Read ↗

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