:: 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:   (10269 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]   (5405 Downloads)    
Type of Study: Case Report | Subject: Genetics & Disease
Received: 2016/07/07 | Accepted: 2016/07/09 | Published: 2016/08/17


XML     Print



Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Volume 1, Issue 4 (Int Biol Biomed J 2015) Back to browse issues page