Article
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].
Hemoglobin - 1 Jan 2009
Joly Philippe, Lacan Philippe, Bererd Martine, Garcia Caroline, Zanella-Cleon Isabelle, Becchi Michel, Aubry Martine, Couprie Nicole, Francina Alain
Abstract excerpt
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)],...
Topics
- Amino Acid Sequence
- Amino Acid Substitution
- Chromatography, High Pressure Liquid
- DNA Mutational Analysis
- Erythrocyte Indices
- Frameshift Mutation
- Genetic Variation
- Genotype
- Hemoglobinopathies
- Hemoglobins, Abnormal
- Humans
