Beta-thalassemia intermedia due to two novel mutations in the promoter region of the beta-globin gene.
Two novel beta-thalassemia mutations affecting the promoter region of the beta-globin gene are described. The first mutation, found in a Moroccan family, is a G-->A substitution at position -190 relative to the beta-globin gene Cap site. The second, found in an Algerian patient, is a G-->C substitution at position -56 relative to the beta-globin Cap site. These two mutations occur in a region (-50 to -300) where promoter elements important for differential control of gene expression have been described and lead to beta-thalassemia intermedia in association with a beta(0)-thalassemia mutations.
Agouti
Imane
I
Laboratoire de Biologie Appliquée, Faculté des Sciences et Techniques, Tanger, Maroc. imaneagouti@yahoo.fr
Bennani
Mohcine
M
Nezri
Meyer
M
Levy
Nicolas
N
Badens
Catherine
C
D000293:Adolescent; D000328:Adult; D005260:Female; D005786:Gene Expression Regulation; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
D005914:Globins