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

WOS: 000318793700008PubMed ID: 23510507beta-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).Science Development Foundation under the President of the Azerbaijan RepublicScience Development Foundation (SDF) - Azerbaijan [EIF-2011-1(3)-82/46/3]This study was supported by the Science Development Foundation under the President of the Azerbaijan Republic [grant No. EIF-2011-1(3)-82/46/3]. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article