Identification of the first mutation in a BRE motif of the ß-globin gene and its inheritance with two other α-globin gene mutations in a Lebanese family.

A 7-year old boy presented with a history of recurrent respiratory infections and hypochromic microcytic anemia. Iron profiles were normal thereby prompting genetic analysis of α- and ß-globin mutations. The first mutation in a BRE motif of the ß-globin gene in the proband, sibling and the mother was identified. The proband and his sibling also inherited common α-globin mutations from the father and mother. In all cases, no serious thalassemia disease was detected.