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Molecular Basis of ?-Thalassemia in Iran

ABSTRACT: Alpha-thalassemia (?-thal) is probably the most prevalent monogenic condition in the world. Deletions are the most common types of mutations in ?-thal, followed by point mutations and small insertion/deletion. In the context of national screening program for prevention of thalassemia and hemoglobinopathies in Iran, ?-thal carriers have come to more attention. Therefore, the frequency and distribution of ?-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 ?-thal carriers and HbH disease with Iranian origin. The mutation data of 10849 ?-thal carriers showed that -?3.7 and ?-5NT were the most common deletional and nondeletional mutations, respectively. In HbH disease cases, the -?3.7/--MED was the most prevalent genotype. Overall, 42 different mutations have been identified in ?-globin cluster reflecting the high heterogeneity of the mutations in Iranian populations.

SUBMITTER: Valaei A

PROVIDER: S-EPMC5712386 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

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Molecular Basis of α-Thalassemia in Iran

Valaei Atefeh A Karimipoor Morteza M Kordafshari Alireza A Zeinali Sirous S

Iranian biomedical journal 20180101 1

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 com ...[more]

PMID: 29115104

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