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Published on: September 6, 2017
Identification of two rare β-globin gene mutations in a patient with β-thalassemia intermedia from Azerbaijan
Chingiz D Asadov1, Eldar R Abdulalimov, Tahira A Mammadova
1Department of Hereditary Pathology of Erythrone, Institute of Haematology and Transfusiology, AZ1007 Baku, Azerbaijan. asadovchingiz@gmail.com
Abstract:
β-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 β-thalassemia (β-thal) mutations, IVS-I-130 (G>C) and codon 37 (TGG>TGA).
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