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:: Volume 6, Number 3 (9-2016) ::
Iran J Ped Hematol Oncol 2016, 6(3): 190-202 Back to browse issues page
Spectrum of β-thalassemia Mutations in Iran, an Update
MR Ali Bazi, MR Ebrahim Miri-Moghaddam
PhD Dept. of Genetics, Faculty of Medicine, Zahedan University of Medical Sciences, Zahedan-Iran.
Abstract:   (799 Views)


β-thalassemia major (β –TM) is the most common thalassemia severe phenotype among Iranians. In recent years, molecular understanding of pathogenesis of β –TM has provided a great opportunity regarding diagnostic issues. Creating comprehensive molecular databases provides highly sensitive diagnostic tools for β –TM and effective prenatal diagnosis (PND) molecular screening tests. Despite a large body of research on molecular basis of β –TM, there are few review papers that consider a general view on the distribution of β –TM mutations in Iran. In the current review, common genetic defects identified in Iranian β –TM patients since 2005 to 2014 have been described. In addition, the prevalences and distributional trends of recognized mutations were discussed.  It was found that IVSII-1 (G>A) and IVSI-5 (G>C) were by far the most frequent mutations detected in Iranian patients. Other common reported mutations included FSC 8/9 (+G), IVS I-110 (G>A), FSC 36/37 (–T), IVSI-1 (G>A), IVSI (-25bp), and codon 44 (-C). In conclusion, it was found that molecular profile of β –TM is highly variable among different Iranian populations; in particular, it seems that ethnicity and intra-migration can be most important participating factors in controlling distributional patterns.

Keywords: β-thalassemia major, genetic modifiers, Iran, Mutation
Full-Text [PDF 814 kb]   (457 Downloads)    
Type of Study: Research | Subject: Special
Received: 2015/04/8 | Accepted: 2016/05/18 | Published: 2016/09/3
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Bazi A, Miri-Moghaddam E. Spectrum of β-thalassemia Mutations in Iran, an Update. Iran J Ped Hematol Oncol. 2016; 6 (3) :190-202
URL: http://ijpho.ssu.ac.ir/article-1-262-en.html
Volume 6, Number 3 (9-2016) Back to browse issues page
Iranian Journal of Pediatric Hematology and Oncology
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