title: [IDENTIFICATION OF MUTATION IVS1-5(G > C) OF THE β-HEMOGLOBIN GENE (Hbβ) BY RDBH-METHOD IN PATIENTS WITH β-THALASSEMIA IN AZERBAIJAN].
abstract: The hematological and molecular-genetics analyses of patients with suspected β-thalassemia were done by the RDBH StripAssay. The complete blood evaluation (HB, MCH, MCV, MCHC, RBC, Hct, HbA2, HbF), monitoring of serum iron and ferritin, molecular analysis--RDBH (Reverse Dot-Blot Hybridization StripAssay) were done. Two persons were carriers of the beta-thalassemic trait as β+ thalassemia minor IVS1-5(G > > C)/wt. Mutation IVS1-5 (G > C) in the compound with a mutation IVS1-110 (G > A) or mutation IVS1-6 (T > C) determines the development of β-thalassemia intermedia. RDBH-method is easy and economical method in molecular diagnosis of β-thalassemia, if hematological parameters are incorrect.
authors.forename: G
authors.initials: G
authors.lastname: Akbarova
mesh_terms: D000293:Adolescent; D000328:Adult; D001382:Azerbaijan; D001772:Blood Cell Count; D002648:Child; D002675:Child, Preschool; D005260:Female; D005293:Ferritins / Q000097:blood; D005319:Fetal Hemoglobin / Q000235:genetics; D005838:Genotype; D006443:Hemoglobin A2 / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007501:Iron / Q000097:blood; D009154:Mutation; D009693:Nucleic Acid Hybridization / Q000379:methods*; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
chemical_list: D055544:beta-Globins; D005293:Ferritins; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin; D007501:Iron