Identification of mutation IVS1-5 (G>C) of the β-hemoglobin gene (Hbβ) by RDBH-method in patients with β-thalassemia in Azerbaijan

SUMMARY. 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), moni toring 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.

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