title: First identification of a point mutation at position -83 (G>A) of the beta-globin gene promoter.
abstract: We report the first identification of a point mutation located within the promoter region of the beta-globin gene at position -83 (G>A) and associated with the common heterozygous deletional alpha-thalassemia (alpha-thal) (-alpha(3.7)/alphaalpha). The patient was an adult male from Gabon belonging to the Obamba sub ethnic group, who was referred to our clinics for a mild microcytic anemia with a Hb A(2) level at the upper limit of the normal value (3.5%). This observation is a new example of alpha- and beta-thal co-inheritance with a normal Hb A(2) level, and illustrates a potential source of pitfall in screening for alpha- and beta-thal carriers.
authors: INSERM UMR-925,Universite de Picardie Jules Verne, Amiens, France.
authors: Estelle
authors: E
authors: Cadet
authors: Karine
authors: K
authors: Foulon
authors: Jean-François
authors: JF
authors: Claisse
authors: Jacques
authors: J
authors: Rochette
mesh_terms: D000328:Adult; D000740:Anemia / Q000097:blood / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004909:Erythrocyte Indices; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic / Q000235:genetics*; D055544:beta-Globins / Q000235:genetics*
chemical_list: D055544:beta-Globins