Identification of two rare ß-globin gene mutations in a patient with ß-thalassemia intermedia from Azerbaijan

PubMedID: 23510507ß-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 ß-thalassemia (ß-thal) mutations, IVS-I-130 (G>C) and codon 37 (TGG>TGA). Copyright © Informa Healthcare USA, Inc.Elmin Inkişafı FonduDeclaration of Interest: 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