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G.Akbarova

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

 

TSitologiia i genetika


Introduction. The hematological and molecular-genetics analyses of patients with suspected β-thalassemia were done by the RDBH StripAssay. Material and methods: 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. Results: 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. Discussion: RDBH-method is easy and economical method in molecular diagnosis of β-thalassemia, if hematological parameters are incorrect

Key words: β-thalassemia, IVS-I-5 (G>C), screening, compaund, Reverse Hybridization StripAssay, Azerbaijan Republic


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  • The articles were positively reviewed and will be published in Cytology and Genetics.
  • The titles and summaries are given according to the authors versions.


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