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Hemoglobin
international journal for hemoglobin research
Volume 39, 2015 - Issue 6
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Original Article

The Spectrum of α-Thalassemia Mutations in Kermanshah Province, West Iran

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Pages 403-406 | Received 14 Nov 2014, Accepted 16 Feb 2015, Published online: 18 Aug 2015
 

Abstract

Thalassemia is a hereditary blood disorder that results from genetic defects causing deficient synthesis of hemoglobin (Hb) polypeptide chains. Although thalassemia mostly affects developing countries, there is limited knowledge of its accurate frequency and distribution in these regions. Knowing the prevalence of thalassemia and the frequency of responsible mutations is therefore an important step in the prevention and control program as well as treatment strategies. α-Thalassemia (α-thal) is prevalent in Middle East Asian populations, including Iran. In this study, 678 unrelated α-thal carriers, attending the Kermanshah Medical Genetics Laboratory, Kermanshah, Iran, were investigated for α-globin gene mutations by multiplex polymerase chain reaction (PCR) and direct sequencing. The most common mutation among our patients was −α3.7 (rightward) (60.9%) deletion, which is also known to occur in high frequencies in other parts of Iran, in Southeast Asia and Mediterranean countries. Other prevalent α-thal mutations were α−5 nt (10.6%), αpolyA4 (9.9%), αpolyA6 (3.7%), – –MED (3.2%), −α4.2 (leftward) (3.1%) deletion and codon 59 (Hb Adana; HBA1: c.179 G > A) (2.5%). These comprehensive new data are useful for establishing a screening strategy for the effective control of α-thal in Kermanshah Province.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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