Iranian journal of Pediatric Hematology and Oncology
Iranian journal of Pediatric Hematology and Oncology
Iran J Ped Hematol Oncol
Medical Sciences
http://ijpho.ssu.ac.ir
1
admin
2008-8892
2228-6993
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8888
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en
jalali
1395
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gregorian
2016
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online
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fulltext
en
Spectrum of β-thalassemia Mutations in Iran, an Update
قلب
Heart
پژوهشي
Research
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<p><strong>Abstract</strong></p>
<p>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.</p>
</div>
β-thalassemia major, genetic modifiers, Iran, Mutation
190
202
http://ijpho.ssu.ac.ir/browse.php?a_code=A-10-70-91&slc_lang=en&sid=1
Ali
Bazi