| Autor: |
Philippe, Joly, Philippe, Lacan, Martine, Bererd, Caroline, Garcia, Isabelle, Zanella-Cleon, Michel, Becchi, Martine, Aubry, Nicole, Couprie, Alain, Francina |
| Rok vydání: |
2009 |
| Předmět: |
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| Zdroj: |
Hemoglobin. 33(3) |
| ISSN: |
1532-432X |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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