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Description of two new alpha variants: Hb Canuts [alpha85(F6)Asp--His (alpha1)] and Hb Ambroise Pare [alpha117(GH5)Phe--Ile (alpha2)]; two new beta variants: Hb Beaujolais [beta84(EF8)Thr--Asn] and Hb Monplaisir [beta147 (Tyr-Lys-Leu-Ala-Phe-Phe-Leu-Leu-Ser-Asn-Phe-Tyr-158-COOH)] and one new delta variant: Hb (A2)North Africa [delta59(E3)Lys--Met]
- Source :
- Hemoglobin. 33(3)
- Publication Year :
- 2009
-
Abstract
- We present here five new hemoglobin (Hb) variants which have been identified during routine Hb analysis before their genotypic characterization. Four of these result from a classical missense mutation: Hb Canuts [alpha85(F6)Asp--His (alpha1)], Hb Ambroise Pare [alpha117(GH5)Phe--Ile (alpha2)], Hb Beaujolais [beta84(EF8)Thr--Asn] and HbA(2)-North Africa [delta59(E3)Lys--Met]. The last one, Hb Monplaisir [beta147 (Tyr-Lys-Leu-Ala-Phe-Phe-Leu-Leu-Ser-Asn-Phe-Tyr-158-COOH)], results from a frameshift mutation at the stop codon of the beta-globin gene which leads to a modified C-terminal sequence in the beta-globin chain. None of these variants seem to have a particular clinical expression in the heterozygous state. The circumstances of the discovery of these five new Hb variants emphasize the fact that an association of techniques is necessary for a complete screening of Hb variants during routine Hb analysis. Globin chain separation by reversed phase liquid chromatography (RP-LC) appears to be the most relevant method.
Details
- ISSN :
- 1532432X
- Volume :
- 33
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Hemoglobin
- Accession number :
- edsair.pmid..........14fb81e682caa65353b88d0c5d351fb1