title: β-Thalassemia gene mutations in Antalya, Turkey: results from a single centre study.
abstract: 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.
authors.affiliation: a Department of Biochemistry , Antalya Education and Research Hospital , Antalya , Turkey.
authors.forename: Ayşegül
authors.initials: A
authors.lastname: Kurtoğlu
authors.affiliation: b Department of Hematology , Medical Faculty of Sıtkı Koçman University , Muğla , Turkey.
authors.forename: Volkan
authors.initials: V
authors.lastname: Karakuş
authors.affiliation: c Department of Genetics , Antalya Education and Research Hospital , Antalya , Turkey.
authors.forename: Özgür
authors.initials: Ö
authors.lastname: Erkal
authors.affiliation: d Department of Hematology , Antalya Education and Research Hospital , Antalya , Turkey.
authors.forename: Erdal
authors.initials: E
authors.lastname: Kurtoğlu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017720:Molecular Epidemiology; D009154:Mutation / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014421:Turkey / Q000453:epidemiology; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D055544:beta-Globins
keywords: mutation spectrum; non-transfusion-dependent thalassemia (NTDT); transfusion-dependent thalassemia (TDT); β-Globin gene; β-thalassemia (β-thal)