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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Two rare mutations in Turkey: IVS I.130(G-C) and IVS II.848(C-A)
N Nal1, A E Manguoglu, C F Sargin
1Department of Medical Biology and Genetics, School of Medicine, Akdeniz University, TR-07070 Antalya, Turkey.
Abstract:
Beta-thalassemia, an autosomal recessive disease, results from mutations of the beta-globin gene. More than 40 different mutations found in Turkish beta-thalassemia patients are mostly composed of point mutations, and only in very rare cases a deletion or an insertion causes beta-thalassemia phenotypes. Here, we report two patients who were clinically diagnosed with beta-thalassemia major and HbS/beta-thalassemia respectively. We performed reverse dot blot hybridization method and automated sequence analysis to detect the mutations. One of the patients was found to be IVS I.130 (G-C) homozygous, the other was HbS/IVS II.848 (C-A) as compound heterozygous. The aim of this study was to report hematological and clinical findings in both cases related with beta-globin gene defects that are very rare.
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