title: Two new alpha-thalassemia point mutations that are undetectable by biochemical techniques.
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.
authors.affiliation: Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Joly
authors.forename: Brigitté
authors.initials: B
authors.lastname: Pégourie
authors.forename: Stéphane
authors.initials: S
authors.lastname: Courby
authors.forename: Claire
authors.initials: C
authors.lastname: Barro
authors.forename: Gérard
authors.initials: G
authors.lastname: Besson
authors.forename: Laura
authors.initials: L
authors.lastname: Cohen
authors.forename: Caroline
authors.initials: C
authors.lastname: Garcia
authors.forename: Alain
authors.initials: A
authors.lastname: Francina
mesh_terms: D003062:Codon; D016368:Frameshift Mutation; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D017354:Point Mutation; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; C531465:hemoglobin Voreppe