Combination of IVS2.849 A-G with IVS1.1 G-A: A mutation of beta-globin gene in a Turkish beta-thalessemia major patient

Manguoglu E., SARGIN C. F., Nal N., KESER İ., Kupesiz A., Yesilipek A., ...More

PEDIATRIC HEMATOLOGY AND ONCOLOGY, vol.22, no.4, pp.291-295, 2005 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 22 Issue: 4
  • Publication Date: 2005
  • Doi Number: 10.1080/08880010590935185
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.291-295
  • Keywords: beta-globin gene, IVS2.849 (A-G), beta-thalassemia, Turkish population, ACCEPTOR SPLICE SITE, THALASSEMIA, TURKEY, ANTALYA, ANEMIA
  • Akdeniz University Affiliated: Yes


Beta-thalassemia, which is an autosomal recessive disease, is among the most, common hemoglobinopathies in Antalya, Turkey. Mutations found in Turkish beta-thalassemia, patients constitute a heterogeneous group, which is mostly composed of point mutations and, only in very rare cases, a deletion or an insertion causes affected or carrier phenotypes. Reverse dot blot hybridization (RDBH) method is used for screening common mutations, and sequence analysis and silver staining were performed consecutively to detect any uncommon mutation. The authors report a first Turkish family with a raw 2 (IVS2) 849 (A-G). The proband's mother and father were determined as carriers of IVS2.849 (A-G) and IVS1.1 (G-A) mutations, respectively. Proband is the first child of the family and she has an IVS2.849 (A-G)/IVS1.1 (G-A) genotype with beta-thalassemia major phenotype. Prenatal diagnosis was performed for the second child, and genotype of the fetus was determined as IVS2.849 (A-G)/Normal. This first report of IVS2.849 (A-G) mutation in Turkish population shows that there are many more mutations contributing the heterogeneity of the mutation spectrum of beta-globin gene in the Turkish population, which indicates migrations of different ethnic origins.