[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.