Mutational Analysis of Beta-Thalassemia Cases from the Aegean Region of Turkey Using an Allele-Specific Oligonucleotide Hybridization Technique

Abstract

The aim of the present study was to evaluate the point mutations of beta-thalassemia patients from the Aegean region of Turkey by using an allele-specific oligonucleotide hybridization technique. DNA isolated from peripheral blood samples of 75 children with beta-thalassemia major or intermedia was analyzed using a Bio-Rad mD_x^TM-Be Tha Gene 1 kit. We determined mutations in 56 (74.6%) patients. The allelic frequency of mutations in 150 chromosomes was as follows: IVS-I-110 (G–A) 44.1%, IVS-I-1 (G–A) 28.2%, IVS-I-6 (T–C) 13.3%, IVS-II-745 (C–G) 9.3%, IVS-II-1 (G–A) 2.7%, Cd 39 (C–T) 2.4%, –87 (C–G) 0% and Cd 6 (–A) 0%. The distribution of the mutation types was consistent with the findings of other research groups.

Thalassemia mutations in Gaziantep, Turkey

“…Although the mutations that we identified in Gaziantep, were similar to those seen elsewhere in our country, we detected some (Cavdar and Arcasoy, 1971;Gurbak et al, 2006;Curuk et al, 2001;Ince et al, 2003;Yildiz et al, 2005;Golesken et al, 2000). The IVS 2.1 (G>A) mutation is the second most frequent type (12.3%) in our study.…”

“…IVS 1.1 (G>A) is the third most frequent mutation in our study at 7.7%. It was the second most frequent mutation in Cukurova (8.3%) the Aegean (28.2%) and Denizli (16.4%) (Curuk et al, 2001;Golesken et al, 2000;Yildiz et al, 2005). It was the fourth most frequent (5.5%) mutation in Diyarbakir and in Turkey as a whole in accordance with the findings of Başak et al (2008) and Ince et al (2003).…”

Interaction of Hb South Florida (codon 1; GTG→ATG) and HbE, with β-thalassemia (IVS1-1; G→A): expression of different clinical phenotypes

“…The presence of IVS1-1(G→A) in this Malaysian Malay family may be a result of ancestral migration from countries bordering the Mediterranean Sea as the Malaysian Malays have ancestral links with Turkey, Persia, and the Middle East. This is further supported as IVS1-1(G→A) was also reported in β-thalassemia cases from the Aegean Region of Turkey [13,18]. However, it appears more likely that the IVS1-1(G→A) β-globin gene mutation may have resulted from migration of Indonesians to Malaysia or intermarriages of Malaysians with Indonesians as this mutation has been reported to be present in Indonesian β-thalassemia individuals with a frequency of 1.7% [15].…”