A Novel Mutation in the α2-Globin Gene in Two Unrelated Iranian Families
| Author | Tayebeh Hamzehloei | en |
| Author | Farnaz Mohajer Tehran | en |
| Author | Hosein Azimian | en |
| Issued Date | 2014-01-01 | en |
| Abstract | Background: 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. Objectives: In the present study we described a novel non-deletion α-thalassemia defect in the 5'UTR region of the α2-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 β and α1 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. | en |
| DOI | https://doi.org/10.17795/semj19735 | en |
| Keyword | Alpha-Thalassemia | en |
| Keyword | Mutation | en |
| Keyword | Globin | en |
| Publisher | Brieflands | en |
| Title | A Novel Mutation in the α2-Globin Gene in Two Unrelated Iranian Families | en |
| Type | Research Article | en |
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