Volume 22, Issue 1 (1-2018)                   ibj 2018, 22(1): 6-14 | Back to browse issues page


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Valaei A, Karimipoor M, Kordafshari A, Zeinali S. Molecular Basis of α-Thalassemia in Iran. ibj. 2018; 22 (1) :6-14
URL: http://ibj.pasteur.ac.ir/article-1-2241-en.html
Abstract:  
Alpha-thalassemia (α-thal) is probably the most prevalent monogenic condition in the world. Deletions are the most common types 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.
Type of Study: Full Length | Subject: Related Fields

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