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Article

A new stable alpha chain variant: Hb Basel [alpha14(A12)Trp-->Leu (alpha1)].

Hemoglobin - 1 Jun 2010

Hergersberg Martin, Brunner-Agten Saskia, Kühne Thomas, Paulussen Michael, Huber Andreas R

Abstract excerpt

We describe a heterozygosity for a new missense mutation on the alpha1-globin gene of an 18-year-old woman of Portuguese ancestry with severe hypochromic anemia and iron deficiency. Hemoglobin (Hb) analysis by high performance liquid chromatography (HPLC) found a prominent peak constituting about 12% of total Hb. Sequencing of the globin genes of the index patient found the mutation alpha14(A12)Trp-->Leu...

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Source

Identifiers

PMID: 20524822
DOI: 10.3109/03630269.2010.483960

Genes

HBA1

Provenance

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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A new stable alpha chain variant: Hb Basel [alpha14(A12)Trp-->Leu (alpha1)].PMID 20524822Read ↗

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

Hb G-Waimanalo [A1] [α64(E13)Asp→Asn; HBA1: c.193 G > A] with Decreased Oxygen Affinity.Semantic proximity Read ↗

A new unstable alpha2-globin gene variant: Hb Chartres [alpha33(B14)Phe --> Ser].Semantic proximity Read ↗

Hb Douala [alpha3(A1)Ser --> Phe]: a new alpha1 gene mutation in a Cameroonian woman heterozygous for Hb S and a 3.7 kb deletional alpha-thalassemia.Semantic proximity Read ↗

Hb Belfast [beta15(A12)Trp-->Arg]: definition of the clinical and hematological phenotype.Semantic proximity Read ↗

Hb Oegstgeest [alpha104(G11)Cys-->Ser (alpha1)]. A new hemoglobin variant associated with a mild alpha-thalassemia phenotype.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 ↗

Hb Extremadura [β64(E8)Gly→Ser;β133(H11)Val→Leu]: a new molecular analysis.Semantic proximity Read ↗

Hb Amsterdam-A1 [α32(B13)Met→Ile; HBA1: c.99G>A]: A Hyperunstable Variant Due to a New Mutation on the α1 Gene.Semantic proximity Read ↗

Hb Charlieu [alpha106(G13)Leu-->Pro (alpha1)]: a new phenotypically silent hemoglobin variant associated with a mild alpha-thalassemia phenotype.Semantic proximity Read ↗

Hb Campinas [alpha26(B7)Ala -->Val]: a novel, electrophoretically silent, variant.Semantic proximity Read ↗

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