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Article

Hemoglobin (Hb) Val de Marne (Hb Footscray) in Brazil: the first case report.

Genetics and molecular research : GMR - 14 Jul 2016

Okumura J V, Shimauti E L T, Silva D G H, Torres L S, Belini-Junior E, Oliveira R G, Patussi E V, Herrero J C M, Bonini-Domingos C R

Abstract excerpt

Hemoglobin (Hb) variants involving alpha-chains are less common in the global population than Hb variants resulting from beta-chain alterations. Generally, alpha-chain Hb variants are caused by point mutations affecting alpha-1 and/or alpha-2 genes of the alpha-globin cluster (HBA1 and HBA2). In Brazil, the most prevalent alpha-chain Hb variant is Hb Hasharon. In this study, we present the first case of an Hb Val...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27421014
DOI: 10.4238/gmr.15028294

Genes

HBA1
HBA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Hemoglobin (Hb) Val de Marne (Hb Footscray) in Brazil: the first case report.PMID 27421014Read ↗

Association of Hb Santa Ana [alpha 2 beta (2)88(F4)Leu- > Pro] and Hb Porto Alegre [alpha 2 beta (2)9(A6)Ser- > Cys] in a Brazilian female.Semantic proximity Read ↗

Hb Stanleyville-II [α78(EF7)Asn→Lys (α2); HbA2: c.237C>A]: incidence of 1:11,500 in a newborn screening program in Brazil.Semantic proximity Read ↗

Hb Camperdown [alpha 2 beta 2 104(G6)Arg-->Ser] identified by DNA analysis in a Brazilian family.Semantic proximity Read ↗

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 ↗

Four new beta chain hemoglobin variants without clinical or hematological effects: Hb San Bruno [beta39(C5)Gln-->His]; Hb Fort Dodge [beta93(F9)Cys-Tyr]; Hb Rhode Island [beta116(G18)His-->Tyr]; and Hb Inglewood [beta142(H20)Ala-->Thr].Semantic proximity Read ↗

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Hb Dartmouth (HBA2: c.200T>C): An α2-Globin Gene Associated with Hb H Disease in One Homozygous Patient.Semantic proximity Read ↗

A high level of Hb F unmasks a new case of Hb Wanjiang (β (F3-F4) Ala87_Thr88delinsSer_Gln (HBB:c.255_264 delinsTTTTTCTCAG)) in a pregnant woman of African ancestry.Semantic proximity Read ↗

Hb Porto Alegre or alpha 2 beta 29(A6)Ser->Cys in unrelated families of the Canary Islands.Semantic proximity Read ↗

Hb Roubaix [alpha55(E4)Val-->Leu]: a new neutral hemoglobin variant involving the alpha1 gene.Semantic proximity Read ↗

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Description of Hb Évora (HBA2: c.106T>C) on an Unexpected Allele in a Swiss Family.Semantic proximity Read ↗

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