Identification of Two Rare β-Globin Gene Mutations in a Patient with β-Thalassemia Intermedia from Azerbaijan

Chingiz D. AsadovDepartment of Hereditary Pathology of Erythrone, Institute of Haematology and Transfusiology, Baku, AzerbaijanCorrespondence[email protected]

Eldar R. AbdulalimovDepartment of Hereditary Pathology of Erythrone, Institute of Haematology and Transfusiology, Baku, Azerbaijan

Tahira A. MammadovaDepartment of Hereditary Pathology of Erythrone, Institute of Haematology and Transfusiology, Baku, Azerbaijan

Surmaya N. QafarovaDepartment of Hereditary Pathology of Erythrone, Institute of Haematology and Transfusiology, Baku, Azerbaijan

Yegana J. GuliyevaDepartment of Hereditary Pathology of Erythrone, Institute of Haematology and Transfusiology, Baku, Azerbaijan

Abdullah TuliDepartment of Biochemistry, Medical Faculty, University of Çukurova, Adana, Turkey

M. Akif ÇürükDepartment of Biochemistry, Medical Faculty, University of Çukurova, Adana, Turkey

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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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Identification of Two Rare β-Globin Gene Mutations in a Patient with β-Thalassemia Intermedia from Azerbaijan

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Identification of Two Rare β-Globin Gene Mutations in a Patient with β-Thalassemia Intermedia from Azerbaijan

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