Article
Identification of two rare β-globin gene mutations in a patient with β-thalassemia intermedia from Azerbaijan.
Hemoglobin - 1 Jan 2013
Asadov Chingiz D, Abdulalimov Eldar R, Mammadova Tahira A, Qafarova Surmaya N, Guliyeva Yegana J, Tuli Abdullah, Cürük M Akif
Abstract excerpt
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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