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Article

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

Hemoglobin - 1 Jan 2010

Warang Prashant, Nair Sona, Nadkarni Anita, Ghosh Kanjaksha, Colah Roshan B

Abstract excerpt

We report a 6-year-old child with Hb H disease due to homozygosity for Hb Sallanches [alpha104(G11)Cys-->Tyr], an unstable alpha2 chain variant. This child presented with a hemolytic anemia of intermediate severity and had never been transfused. This variant often remains undetected in the heterozygous state.

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Source

Identifiers

PMID: 20113287
DOI: 10.3109/03630260903547526

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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 H disease due to homozygosity for a rare alpha2-globin variant, Hb Sallanches.PMID 20113287Read ↗

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

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

Hemoglobin H disease: not necessarily a benign disorder.Semantic proximity Read ↗

Hb Sallanches [alpha104(G11)Cys-->Tyr, TGC>TAC] occurs frequently on the Indian subcontinent.Semantic proximity Read ↗

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Description of Three New α Variants and Four New β Variants: Hb Montluel [α110(G17)Ala → Val; HBA1: c.332C > T], Hb Cap d'Agde [α131(H14)Ser → Cys; HBA2: c.395C > G] and Hb Corsica [α100(G7)Leu → Pro; HBA1: 302T > C]; Hb Nîmes [β104(G6)Arg → Gly; HBB: c.313A > G], Hb Saint Marcellin [β112(G14)Cys → Gly; HBB: c.337T > G], Hb Saint Chamond [β80(EF4)Asn → 0; HBB: c.241_243delAAC] and Hb Dompierre [β29(B11)Gly → Arg; HBB: c.88G > C].Semantic proximity Read ↗

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