Description of Three NewαVariants and Four NewβVariants: 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

Description of Three NewαVariants and Four NewβVariants: 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]

Published:2015-05-04 Issue:3 Volume:39 Page:147-151
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Renoux Céline,Feray Cécile,Joly Philippe,Lacan Philippe,Francina Alain

Publisher

Informa UK Limited

Subject

Biochemistry (medical),Clinical Biochemistry,Genetics (clinical),Hematology

Link

http://www.tandfonline.com/doi/pdf/10.3109/03630269.2015.1031243

Reference17 articles.

1. HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server

2. IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology

3. Detection of a Thalassemic α-Chain Variant (Hemoglobin Groene Hart) by Reversed-Phase Liquid Chromatography

4. Hemoglobin Petah Tikva (alpha 110 ala replaced by asp): a new unstable variant with alpha-thalassemia-like expression

5. A New α Chain Variant HB Tonosho [α110(G17)ALA→THR]: Subunit Dissociation During Cation Exchange Chromatography for HB A1cAssay

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1. The Importance of Characterizing the Hemoglobin Instability of New Variants: The Case of Hb Dompierre [β29(B11)Gly→Arg, HBB: c.88G>C];Hemoglobin;2020-01-02