Molecular Basis of α-Thalassemia in Iran

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VALAEI ATEFEH; KARIMIPOOR MORTEZA; KORDAFSHARI ALIREZA; ZEINALI SIROUS

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Journal Paper

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Journal: Iranian Biomedical Journal Year:2018 | Volume:22 | Issue:1 Page(s): 6-14

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Title

Molecular Basis of α-Thalassemia in Iran

Author(s)

VALAEI ATEFEH | KARIMIPOOR MORTEZA | KORDAFSHARI ALIREZA | ZEINALI SIROUS | Issue Writer Certificate

Keywords

α-Thalassemia

Point mutation

HbH disease

Iran

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-α 3. 7 and α-5NT were the most common deletional and nondeletional mutations, respectively. In HbH disease cases, the-α 3. 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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APA: Copy

VALAEI, ATEFEH, KARIMIPOOR, MORTEZA, KORDAFSHARI, ALIREZA, & ZEINALI, SIROUS. (2018). Molecular Basis of α-Thalassemia in Iran. IRANIAN BIOMEDICAL JOURNAL, 22(1), 6-14. SID. https://sid.ir/paper/756303/en

Vancouver: Copy

VALAEI ATEFEH, KARIMIPOOR MORTEZA, KORDAFSHARI ALIREZA, ZEINALI SIROUS. Molecular Basis of α-Thalassemia in Iran. IRANIAN BIOMEDICAL JOURNAL[Internet]. 2018;22(1):6-14. Available from: https://sid.ir/paper/756303/en

IEEE: Copy

ATEFEH VALAEI, MORTEZA KARIMIPOOR, ALIREZA KORDAFSHARI, and SIROUS ZEINALI, “Molecular Basis of α-Thalassemia in Iran,” IRANIAN BIOMEDICAL JOURNAL, vol. 22, no. 1, pp. 6–14, 2018, [Online]. Available: https://sid.ir/paper/756303/en

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