Beta-thalassemia alleles in Aegean region of Turkey: Effect on clinical severity of disease


NISLI G., Kavakli K. , AYDıNOK Y. , OZTOP S., CETINGUL N.

PEDIATRIC HEMATOLOGY AND ONCOLOGY, vol.14, no.1, pp.59-65, 1997 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 14 Issue: 1
  • Publication Date: 1997
  • Doi Number: 10.3109/08880019709030885
  • Title of Journal : PEDIATRIC HEMATOLOGY AND ONCOLOGY
  • Page Numbers: pp.59-65
  • Keywords: genotype, thalassemia, thalassemic mutations, MUTATIONS

Abstract

Beta (beta) globin gene analysis teas performed in 54 homozygous beta-thalassemia patients followed up in the Pediatric Hematology Department of Medical School of Ege University. The spectrum of beta-thalassemia alleles and their effect on clinical severity of disease were investigated. Twelve different mutations were determined in our patients. The six most frequent alleles, IVSI-110 (G-A), IVSI-6 (T-C), IVSI-I (G-A), IVSII-745 (C-G), Cd39 (C-T), and FSC8, account for 80.6% of all the disease genes. Eleven percent of the chromosomes could not be identified with the probes used in this study. In 38 patients both of whose beta-thalassemia alleles were identified, the beta-thalassemia alleles were found to be the major determinant of the clinical severity of disease. The clinical progress of disease was also closely related to the deg? ee of iron overload.