Two New α-Thalassemia Point Mutations that are Undetectable by Biochemical Techniques

• Published in: Hemoglobin Vol. 32; no. 4; pp. 411 - 417
• Main Authors: Joly, Philippe, Pégourié, Brigitte, Courby, Stéphane, Barro, Claire, Besson, Gérard, Cohen, Laura, Garcia, Caroline, Francina, Alain
• Format: Journal Article
• Language: English
• Published: England Informa UK Ltd 01.01.2008; Taylor & Francis
• Subjects: alpha-Thalassemia - genetics; Codon; Frameshift; Frameshift Mutation; Hemoglobin (Hb) variants; Hemoglobins, Abnormal - genetics; Humans; Mutation, Missense; Point Mutation; Point mutations; α-Thalassemia (α-thal)
• ISSN: 0363-0269; 1532-432X
• DOI: 10.1080/03630260802173791

We report two new point mutations causing α-thalassemia (α-thal) that could not be characterized by conventional biochemical studies. The first mutation is a single base substitution at codon 123 of the α1-globin gene [α123(H6)Ala→Pro, GCC>CCC (α1)] 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 α2 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.