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Hemoglobin
international journal for hemoglobin research
Volume 39, 2015 - Issue 6
60
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Short Communication

Identification of a Rare β0-Thalassemia Mutation, Codon 54 (–T) (HBB: c.165delT) in an Iranian Family

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Pages 445-447 | Received 12 Mar 2015, Accepted 26 Apr 2015, Published online: 19 Aug 2015
 

Abstract

β-Thalassemia (β-thal) is the most widespread autosomal recessive disorder worldwide. The present study describes a very rare β-globin gene mutation, codon 54 (–T) (HBB: c.165delT), in a family from northern Iran. Nucleotide sequencing of amplified DNA obtained from a 28-year-old man revealed a deletion (–T) at codon 54 of the β-globin gene that results in a nonsense sequence at codon 60 and inphase termination at codon 59. Moreover, the haplotype combination of six different restriction enzyme sites in the β-globin cluster was determined for this mutation. To the best of our knowledge, this is the second article reporting the codon 54 mutation worldwide and the first report of this mutation in the Iranian population, emphasizing the high heterogeneity of this population.

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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