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. , ...Daha Fazla

HEMOGLOBIN, cilt.37, ss.291-296, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 37 Konu: 3
  • Basım Tarihi: 2013
  • Doi Numarası: 10.3109/03630269.2013.774283
  • Dergi Adı: HEMOGLOBIN
  • Sayfa Sayıları: ss.291-296

Özet

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).