Introduction and objectives Neighboring the border between Turkey and Syria, Sanliurfa is one of the Turkish provinces with the highest number of Syrian refugees in our country. We aimed to find out the spectrum of beta-globin gene mutations in adult Turkish citizens and Syrian refugees with beta-thalassemia major. Results Of the participants, 35 patients (70%) were Turkish citizens and 15 patients (30%) were Syrian. The most common mutation in Turkish patients was found to be IVS-I-110 (G>A) with a frequency of 28.8%, followed by IVS-I-6 (T>C) with a frequency of 15.5%. Other common mutations were IVS-I-1 (G>A) and codon 39 (C>T) with frequencies of 11.1%. These four mutations accounted for 65.5% of all mutations in the Turkish cohort. The most common mutations in Syrian refugee patients were IVS-I-1 (G>A), IVS-II-1 (G>A), IVS-I-5 (G>C), and codon 5 (-CT), all with a frequency of 15.7%, accounting for 62.8% of all mutations in the Syrian patients. In the analysis, codon 5 (-CT) mutation (15.7% vs 0%, p=0.023) was found significantly higher in Syrian refugees compared to Turkish citizens. Discussion and conclusions A wide spectrum of mutations was detected in beta-thalassemia major patients living in the Sanliurfa region. Mutational profiles in Turkish and Syrian patients were found to be significantly different from each other. Because marriages between Syrian refugees and Turkish citizens are increasing in our region, the genetic findings and the mutational profiles in Turkish and Syrian patients obtained in this study are thought to become useful for future prenatal molecular diagnostic tests.
Keywords: beta globin gene mutations; beta thalassemia major; sanliurfa; syrian refugees; turkey.
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