IDENTIFICATION OF MUTATION IVS1-5 (G > C) OF THE β-HEMOGLOBIN GENE (Hbβ) BY RDBH-METHOD IN PATIENTS WITH β-THALASSEMIA IN AZERBAIJAN

Akbarova, G.

Tsitologiia i Genetika 49(3): 40-44

2015


ISSN/ISBN: 0564-3783
PMID: 26214904
Document Number: 16579
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.

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IDENTIFICATION OF MUTATION IVS1-5(G > C) OF THE β-HEMOGLOBIN GENE (Hbβ) BY RDBH-METHOD IN PATIENTS WITH β-THALASSEMIA IN AZERBAIJAN