title: Identification of two rare β-globin gene mutations in a patient with β-thalassemia intermedia from Azerbaijan.
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).
authors.affiliation: Department of Hereditary Pathology of Erythrone, Institute of Haematology and Transfusiology, AZ1007 Baku, Azerbaijan. asadovchingiz@gmail.com
authors.forename: Chingiz D
authors.initials: CD
authors.lastname: Asadov
authors.forename: Eldar R
authors.initials: ER
authors.lastname: Abdulalimov
authors.forename: Tahira A
authors.initials: TA
authors.lastname: Mammadova
authors.forename: Surmaya N
authors.initials: SN
authors.lastname: Qafarova
authors.forename: Yegana J
authors.initials: YJ
authors.lastname: Guliyeva
authors.forename: Abdullah
authors.initials: A
authors.lastname: Tuli
authors.forename: M Akif
authors.initials: MA
authors.lastname: Cürük
mesh_terms: D000328:Adult; D000368:Aged; D001382:Azerbaijan; D001483:Base Sequence; D003062:Codon; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000208:ethnology / Q000235:genetics*
chemical_list: D003062:Codon; D055544:beta-Globins