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. 2008;32(4):411-7.
doi: 10.1080/03630260802173791.

Two new alpha-thalassemia point mutations that are undetectable by biochemical techniques

Philippe Joly  1 , Brigitté Pégourie, Stéphane Courby, Claire Barro, Gérard Besson, Laura Cohen, Caroline Garcia, Alain Francina
Affiliations

Two new alpha-thalassemia point mutations that are undetectable by biochemical techniques

Philippe Joly et al. Hemoglobin. 2008.

Abstract

We report two new point mutations causing alpha-thalassemia (alpha-thal) that could not be characterized by conventional biochemical studies. The first mutation is a single base substitution at codon 123 of the alpha1-globin gene [alpha123(H6)Ala-->Pro, GCC>CCC (alpha1)] and leads to the substitution of a proline residue in the H helix. The resulting unstable hemoglobin (Hb) variant has been named Hb Voreppe. The second is a frameshift of the alpha2 gene due to a deletion (-C), either of the third base of codon 112 or of the first base of codon 113, that causes a premature stop codon at position 132.

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