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:: Volume 1, Issue 4 (Int Biol Biomed J 2015) ::
IBBJ 2015, 1(4): 164-166 Back to browse issues page
Identification of a Rare Synonymous Beta Globin Mutation, HBB:c.180G>A codon 59 (G>A) in an Iranian Patient
Haleh Akhavan-Niaki * 1, Reza Youssefi Kamangari , Ali Banihashemi , Mandana Azizi
1- , halehakhavan@yahoo.com
Abstract:   (2586 Views)

Beta thalassemia is the  most common autosomal recessive disorder. The present study reports a rare β globin gene mutation, HBB: c.180G>A: codon 59 (AAG/AAA), in a patient from Gilan province, northern Iran. Nucleotide sequencing of amplified DNA belonging to a 35 years old man presenting mild hypochromia revealed a synonymous mutation due to a G>A conversion at the third position of codon 59 of the beta globin gene. The haplotype combination of 2 restriction enzyme sites in beta globin cluster was determined for this mutation. To our knowledge, this is the first article reporting a synonymous mutation  at codon 59 (G>A) among the Iranian population highlighting once again the high heterogeneity of this population.

Keywords: Beta globin, HBB: c.180G>A mutation, Iran
Full-Text [PDF 1707 kb]   (1315 Downloads)    
Type of Study: Case Report | Subject: Genetics & Disease
Received: 2016/07/7 | Accepted: 2016/07/9 | Published: 2016/08/17
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Akhavan-Niaki H, Youssefi Kamangari R, Banihashemi A, Azizi M. Identification of a Rare Synonymous Beta Globin Mutation, HBB:c.180G>A codon 59 (G>A) in an Iranian Patient. IBBJ. 2015; 1 (4) :164-166
URL: http://ibbj.org/article-1-57-en.html


Volume 1, Issue 4 (Int Biol Biomed J 2015) Back to browse issues page
International Biological and Biomedical Journal
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