spectrum of β-thalassemia mutations in iran, an update
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abstract
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.
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Journal title:
iranian journal of pediatric hematology and oncologyجلد ۶، شماره ۳، صفحات ۱۹۰-۲۰۲
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