Spectrum of β-thalassemia Mutations in Iran, an Update

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BAZI ALI; MIRI MOGHADDAM EBRAHIM

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Journal Paper

Paper Information

Journal: IRANIAN JOURNAL OF PEDIATRIC HEMATOLOGY AND ONCOLOGY Year:2016 | Volume:6 | Issue:3 Page(s): 190-202

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Information Journal Paper

Title

Spectrum of β-thalassemia Mutations in Iran, an Update

Author(s)

BAZI ALI | MIRI MOGHADDAM EBRAHIM | Issue Writer Certificate

Keywords

β-thalassemia major

genetic modifiers

Iran

mutation

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.

Cites

THE ROLE OF IMMUNE SYSTEM IN THALASSEMIA MAJOR: A NARRATIVE REVIEW

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APA: Copy

BAZI, ALI, & MIRI MOGHADDAM, EBRAHIM. (2016). Spectrum of β-thalassemia Mutations in Iran, an Update. IRANIAN JOURNAL OF PEDIATRIC HEMATOLOGY AND ONCOLOGY, 6(3), 190-202. SID. https://sid.ir/paper/320679/en

Vancouver: Copy

BAZI ALI, MIRI MOGHADDAM EBRAHIM. Spectrum of β-thalassemia Mutations in Iran, an Update. IRANIAN JOURNAL OF PEDIATRIC HEMATOLOGY AND ONCOLOGY[Internet]. 2016;6(3):190-202. Available from: https://sid.ir/paper/320679/en

IEEE: Copy

ALI BAZI, and EBRAHIM MIRI MOGHADDAM, “Spectrum of β-thalassemia Mutations in Iran, an Update,” IRANIAN JOURNAL OF PEDIATRIC HEMATOLOGY AND ONCOLOGY, vol. 6, no. 3, pp. 190–202, 2016, [Online]. Available: https://sid.ir/paper/320679/en

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