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

Hemoglobin - 1 Jan 2010

Joly Philippe, Szymanowicz Anton, Neyron Marie-Jeanne, Zine Abdellah, Wajcman Henri, Francina Alain

Abstract excerpt

A chronic microcytosis and hypochromia without any iron deficiency were observed in an 11-year-old boy of French Caucasian origin. The same hematological findings were also found for his mother. No abnormal hemoglobin (Hb) was detected using isoelectric focusing, cation exchange liquid chromatography and reversed phase liquid chromatography of the globin chains but DNA sequencing revealed a CTG>CCG transition at...

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Identifiers

PMID: 20642334
DOI: 10.3109/03630269.2010.486350

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Hb Charlieu [alpha106(G13)Leu-->Pro (alpha1)]: a new phenotypically silent hemoglobin variant associated with a mild alpha-thalassemia phenotype.PMID 20642334Read ↗

Hb Groene Hart: a new Pro-->Ser amino acid substitution at position 119 of the alpha1-globin chain is associated with a mild alpha-thalassemia phenotype.Semantic proximity Read ↗

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Hb Bronte or alpha93(FG5)Val-->Gly: a new unstable variant of the alpha2-globin gene, associated with a mild alpha(+)-thalassemia 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 ↗

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Hb J-Cape Town [alpha92(FG4)Arg-->Gln (alpha1), CGG-->CAG] in Southern Italy found in a patient with erythrocytosis.Semantic proximity Read ↗

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

Hb Hinwil [beta38(C4)Thr-->Asn, ACC>AAC] associated with beta0-thalassemia in a Sicilian child.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 ↗

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