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

Background: ?-globin is encoded by two adjacent genes, ?l and ?2. evidence suggests that these genes are not expressed equally and that the ?2-globin gene encodes the majority of ?-globin. this finding predicts that a thalassemic mutation of the ?2-globin gene would result in a more severe loss of ?-chain synthesis than a similar mutation in the ?l-globin gene.objectives: in the present study we described a novel non-deletion ?-thalassemia defect in the 5'utr region of the ?2-globin gene.materials and methods: 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 b and ?1 globin genes was also carried out and their dna was sequenced. no mutation was detected.results: 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.conclusions: 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.