title: 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].
abstract: We present here seven new hemoglobin (Hb) variants identified during routine Hb analysis. All of them are caused by a missense mutation except Hb Saint Chamond, which results from an in-frame deletion of the asparagine residue at β80. All these variants are clinically silent in the heterozygous state but two of them (Hb Cap d'Agde and Hb Dompierre) may be unstable, whereas Hb Nîmes could present a very slightly elevated oxygen affinity. These data are to be confirmed by appropriate biochemical tests.
authors.affiliation: Unité de Pathologie Moléculaire du Globule Rouge, Hôpital Edouard Herriot , Lyon , France.
authors.forename: Céline
authors.initials: C
authors.lastname: Renoux
authors.forename: Cécile
authors.initials: C
authors.lastname: Feray
authors.forename: Philippe
authors.initials: P
authors.lastname: Joly
authors.forename: Philippe
authors.initials: P
authors.lastname: Lacan
authors.forename: Alain
authors.initials: A
authors.lastname: Francina
mesh_terms: D000483:Alleles; D004252:DNA Mutational Analysis; D014644:Genetic Variation; D005838:Genotype; D006455:Hemoglobins, Abnormal / Q000235:genetics / Q000378:metabolism; D006801:Humans; D009154:Mutation; D010641:Phenotype; D055542:alpha-Globins / Q000235:genetics* / Q000378:metabolism; D055544:beta-Globins / Q000235:genetics* / Q000378:metabolism
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; D055544:beta-Globins
keywords: glycated hemoglobin (Hb A1c); hemoglobin (Hb); variant; α-globin; β-globin