A Novel Mutation in the α2-Globin Gene in Two Unrelated Iranian Families

α-globin is encoded by two adjacent genes, αl and α2. Evidence suggests that these genes are not expressed equally and that the α2-globin gene encodes the majority of α-globin. This finding predicts that a thalassemic mutation of the α2-globin gene would result in a more severe loss of α-chain synthesis than a similar mutation in the αl-globin gene.. In the present study we described a novel non-deletion α-thalassemia defect in the 5''UTR region of the α2-globin gene.. For molecular analysis, genomic DNA was isolated from peripheral blood cells by a salting out procedure. The common alpha deletion mutations were ruled out using the published primers and conditions. The amplification of the entire β and α1 globin genes was also carried out and their DNA was sequenced. No mutation was detected.. The mutation under study was located on an AP-1 transcription factor binding site and inherited in two unrelated Iranian families with hypochromic microcytic anemia.. The patients in this study had moderate microcytosis and hypochromia without hemolysis, jaundice and splenomegaly. Molecular analysis in these patients revealed a non-deletion type of mutation in the promoter region, which is highly consistent with findings of other studies..