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β‐Thalassemia intermedia due to two novel mutations in the promoter region of the β‐globin gene
Author(s) -
Agouti Imane,
Bennani Mohcine,
Nezri Meyer,
Levy Nicolas,
Badens Catherine
Publication year - 2008
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2007.01017.x
Subject(s) - gene , thalassemia , mutation , genetics , biology , promoter , microbiology and biotechnology , globin , point mutation , gene expression
Two novel β‐thalassemia mutations affecting the promoter region of the β‐globin gene are described. The first mutation, found in a Moroccan family, is a G→A substitution at position −190 relative to the β‐globin gene Cap site. The second, found in an Algerian patient, is a G→C substitution at position −56 relative to the β‐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 β‐thalassemia intermedia in association with a β 0 ‐thalassemia mutations.