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 N(i)double-under-barmes [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]

被引：3
作者：
Renoux, Celine [1 ]
Feray, Cecile [1 ]
Joly, Philippe [1 ,2 ]
Lacan, Philippe [1 ]
Francina, Alain [1 ]
机构：
[1] Hop Edouard Herriot, Unite Pathol Mol Globule Rouge, F-69437 Lyon 03, France
[2] Univ Lyon, EA647, Ctr Rech & Innovat Sport CRIS, Lyon, France
来源：
HEMOGLOBIN | 2015年 / 39卷 / 03期
关键词：
alpha-globin; beta-globin; glycated hemoglobin (Hb A(1c)); hemoglobin (Hb); variant; HEMOGLOBIN-VARIANTS; UNSTABLE VARIANT; GLOBIN GENE; CHROMATOGRAPHY;
D O I：
10.3109/03630269.2015.1031243
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
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 beta 80. 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 N (i) over cap mes could present a very slightly elevated oxygen affinity. These data are to be confirmed by appropriate biochemical tests.
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收藏
页码：147 / 151
页数：5
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