Two rare mutations in Turkey: IVSI.130(G-C) and IVSII.848(C-A)

Nal N., MANGUOGLU A. E., SARGIN C. F., KESER I., Kupesiz A., Yesilipek A., ...More

CLINICAL AND LABORATORY HAEMATOLOGY, vol.27, no.4, pp.274-277, 2005 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 27 Issue: 4
  • Publication Date: 2005
  • Doi Number: 10.1111/j.1365-2257.2005.00691.x
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.274-277
  • Keywords: beta-thalassemia, rare mutations, IVSI. 130 (G-C), IVSII. 848 (C-A), HbS/beta-thalassemia, BETA-THALASSEMIA, GLOBIN GENE, HEMOGLOBINOPATHIES, ANTALYA, ANEMIA
  • Akdeniz University Affiliated: Yes


beta-Thalassemia, an autosomal recessive disease, results from mutations of the beta-globin gene. More than 40 different mutations found in Turkish beta-thalassemia patients are mostly composed of point mutations, and only in very rare cases a deletion or an insertion causes beta-thalassemia phenotypes. Here, we report two patients who were clinically diagnosed with beta-thalassemia major and HbS/beta-thalassemia respectively. We performed reverse dot blot hybridizaton method and automated sequence analysis to detect the mutations. One of the patients was found to be IVS I.130 (G-C) homozygous, the other was HbS/IVS II.848 (C-A) as compound heterozygous. The aim of this study was to report hematological and clinical findings in both cases related with beta-globin gene defects that are very rare.