β-Thalassemia gene mutations in Antalya, Turkey: results from a single centre study
Hemoglobin, cilt.40, sa.6, ss.392-395, 2016 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 40 Sayı: 6
- Basım Tarihi: 2016
- Doi Numarası: 10.1080/03630269.2016.1256818
- Dergi Adı: Hemoglobin
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.392-395
- Anahtar Kelimeler: beta-Globin gene, beta-thalassemia (beta-thal), mutation spectrum, non-transfusion-dependent thalassemia (NTDT), transfusion-dependent thalassemia (TDT)
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
β-Thalassemia (β-thal) is a common autosomal recessive disorder resulting from over 300 different mutations of the β-globin genes. Our aim was to create a mutation map of β-thal in the province of Antalya, Turkey. In this study, mutation analysis of a total 146 of β-thal patients followed at the Thalassemia Center of the Antalya Education and Research Hospital, Antalya, Turkey, were included. Direct DNA sequence analysis was performed for mutation scanning of the β-globin gene. One hundred and forty-six patients with β-thal including all types were analyzed, and 14 different β-thal mutations were detected. The most frequently seen mutation was HBB: c.93 − 21G > A [IVS-I-110 (G > A)] (52.7%), followed by HBB:.c.92 + 6T > C [IVS-I-6 (T > C)] (14.4%), HBB: c.−80T > A [–30 (T > A)] (8.2%), HBB: c.315 + 1G > A [IVS-II-1 (G > A)] (8.2%), which made up 83.1% of the observed mutations. Our results indicate the importance of micromapping and epidemiology studies of thalassemia, which will assist in establishing the national prevention and control program in Turkey.