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Iranian Biomedical Journal، جلد ۲۲، شماره ۱، صفحات ۶-۱۴
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
Molecular Basis of α-Thalassemia in Iran |
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| چکیده انگلیسی مقاله |
Alpha-thalassemia (α-thal) is probably the most prevalent monogenic condition in the world. Deletions are the most common type of mutations in α-thal, followed by point mutations and small insertion/deletion. In the context of national screening program for prevention of thalassemia and hemoglobinopathies in Iran, α-thal carriers have come to more attention. Therefore, the frequency and distribution of α-globin mutations in various regions of the country have been studied in recent years. A comprehensive search was performed in PubMed, Scopus, and national databases for finding reports on mutation detection in α-thal carriers and HbH disease with Iranian origin. The mutation data of 10849 α-thal carriers showed that -α3.7 and α-5NT were the most common deletional and nondeletional mutations, respectively. In HbH disease cases, the -α3.7/--MED was the most prevalent genotype. Overall, 42 different mutations have been identified in α-globin cluster reflecting the high heterogeneity of the mutations in Iranian populations. |
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| کلیدواژه‌های انگلیسی مقاله |
α-Thalassemia, Point mutation, HbH disease, Iran |
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| نویسندگان مقاله |
عاطفه ولایی | atefeh valaei
department of molecular medicine, biotechnology research center, pasteur institute of iran, tehran, iran.
سازمان اصلی تایید شده: انستیتو پاستور ایران (Pasteur institute of iran)
مرتضی کریمی پور | morteza karimipoor
department of molecular medicine, biotechnology research center, pasteur institute of iran, tehran, iran.
سازمان اصلی تایید شده: انستیتو پاستور ایران (Pasteur institute of iran)
علیرضا کردافشاری | alireza kordafshari
department of molecular medicine, biotechnology research center, pasteur institute of iran, tehran, iran.
سازمان اصلی تایید شده: انستیتو پاستور ایران (Pasteur institute of iran)
سیروس زینالی | sirous zeinali
medical genetics lab of dr. zeinali, kawsar human genetics research center, tehran, iran
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| نشانی اینترنتی |
http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-703&slc_lang=en&sid=en |
| فایل مقاله |
دریافت فایل مقاله |
| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
Related Fields |
| نوع مقاله منتشر شده |
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