spectrum of β-thalassemia mutations in iran, an update
نویسندگان
چکیده
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.
منابع مشابه
Spectrum of β-thalassemia Mutations in Iran, an Update
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 diagno...
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متن کاملthe spectrum of β -thalassemia mutations in isfahan province of iran
background: β-thalassemia is a common autosomal recessive disorder resulting from over 200 different mutations of beta globin genes. the aim of the present study was to identify the distribution and frequency of the most common β-thalassemia mutations among the population of isfahan province in central iran. methods: the data presented here were derived from a total of 114 β-thalassemia chro...
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عنوان ژورنال:
iranian journal of pediatric hematology and oncologyجلد ۶، شماره ۳، صفحات ۱۹۰-۲۰۲
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