Identification of the mutation IVS 1-5 (G > C) of the beta-hemoglobin gene (Hb beta) by RDBH in patients with beta-thalassemia in Azerbaijan

摘要

The hematological and molecular genetic analysis of samples taken from patients with suspected beta-thalassemia were made by Reverse Dot-Blot Hybridization StripAssay (RDBH StripAssay). A complete blood count (HB, MCH, MCV, MCHC, RBC, Hct, HbA(2), HbF) was run, serum iron and ferritin concentrations were monitored, and molecular analysis by RDBH was carried out. Two patients who were the heterozygous carriers of the mutation IVS 1-5 (G > C) got the diagnosis of beta(+)-thalassemia minor. The mutation IVS 1-5 (G > C) in the compound with mutations IVS 1-110 (G > A) or IVS 1-6 (T > C) determines the development of beta-thalassemia intermedia. RDBH is an easy and economical method for molecular diagnostics of beta-thalassemia, especially in cases if the analysis of hematological parameters gives dubious results.