Novel I'eta (beta)-Thalassemia Mutation in Turkish Children

作者：Ulasli Mustafa^*; Oztuzcu Serdar; Kirkbes Sevil; Bay Ali; Igci Yusuf Ziya; Bayraktar Recep; Igci Mehri; Ergun Sercan; Cakmak Ecir Ali; Aytekin Elif; Arslan Ahmet

来源：Indian Journal of Hematology and Blood Transfusion, 2015, 31(2): 218-222.

DOI：10.1007/s12288-014-0380-6

• Beta-thalassemia (beta-Thal)
• Beta globin gene
• beta-Thal mutations
• Molecular diagnosis

Beta (beta)-thalassemia is the most frequently observed hereditary blood disorder in the world. It is characterized by deficiency of hemoglobin beta-globin gene and is also a profoundly heterogeneous both at the molecular and clinical level. In the case of beta-thalassemia, there is reduced (beta(+) type) or absent (beta(o) type) synthesis of the beta chains of hemoglobin. beta-Thalassemia clinically occurs in three main forms: major, intermedia and minor according to requirement of transfusion. The objective of this study was to evaluate beta-thalassemia mutations in 89 patients ranging from 2 months to 16 years of age, who enrolled to Medical School Research and Training Hospital, Gaziantep University. The direct DNA sequence analysis was performed for mutation scanning of beta-globin gene. 89 children with beta-Thalassemia including all types were analyzed, 16 different beta-thalassemia mutations were detected. We have also identified a novel mutation (HBB.c.-80delT, rs397509430) in the promoter region (-30 TATA box) of beta-globin gene, and clinical data of patient having novel mutation was given. The beta-Thalassemia mutations were determined as beta-Thalassemia major type in 42 patients (47.19 %), beta-Thalassemia intermedia in 4 (4.49 %), beta-Thalassemia minor in 43, (48.31 %) patients. The most frequent mutation was IVS I-110 G > A, followed by IVS I-1 G > A, IVS I-6 T > C, IVS II-1 G > A, respectively.

• 出版日期2015-6