IDENTIFICATION OF TWO RARE beta-GLOBIN GENE MUTATIONS IN A PATIENT WITH beta-THALASSEMIA INTERMEDIA FROM AZERBAIJAN

Asadov C. D., Abdulalimov E. R., Mammadova T. A., Qafarova S. N., Guliyeva Y. J., TULİ A., ...More

HEMOGLOBIN, vol.37, no.3, pp.291-296, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 37 Issue: 3
  • Publication Date: 2013
  • Doi Number: 10.3109/03630269.2013.774283
  • Journal Name: HEMOGLOBIN
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.291-296
  • Çukurova University Affiliated: Yes

Abstract

beta-Thalassemias are an inherited group of disorders of hemoglobin (Hb) and comprise the most common monogenic disorders in Azerbaijan. They are extremely heterogeneous at the molecular level. Here we report the first identification of a patient who is a compound heterozygote for two rare beta-thalassemia (beta-thal) mutations, IVS-I-130 (G>C) and codon 37 (TGG>TGA).