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Iranian Journal of Pediatric Hematology and Oncology، جلد ۶، شماره ۳، صفحات ۱۹۰-۲۰۲
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عنوان انگلیسی Spectrum of β-thalassemia Mutations in Iran, an Update
چکیده انگلیسی مقاله Abstract 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.
کلیدواژه‌های انگلیسی مقاله β-thalassemia major, genetic modifiers, Iran, mutation
نویسندگان مقاله علی بزی | ali bazi
faculty of allied medical sciences, zabol university of medical sciences, zabol, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی زابل (Zabol university of medical sciences)

ابراهیم میری مقدم | ebrahim miri moghaddam
genetics of non-communicable disease research center, dept. of genetics, faculty of medicine, zahedan university of medi
نشانی اینترنتی http://ijpho.ssu.ac.ir/browse.php?a_code=A-10-70-91&slc_lang=en&sid=en
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