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Genetics and Molecular Biology

Print version ISSN 1415-4757

Abstract

MOOSA, Mahdi Muhammad et al. Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient. Genet. Mol. Biol. [online]. 2011, vol.34, n.3, pp.406-409.  Epub July 22, 2011. ISSN 1415-4757.  https://doi.org/10.1590/S1415-47572011005000026.

Screening of mutations that cause β-thalassaemia in the Bangladeshi population led to the identification of a patient with a combination of two rare mutations, Hb Monroe and HBB: -92C>G.The β-thalassaemia major male individual was transfusion-dependent and had an atypical β-globin gene cluster haplotype. Of the two mutations, Hb Monroe has been characterized in detail. Clinical effects of the other mutation, HBB: -92C>G,are unknown so far. Bioinformatics analyses were carried out to predict the possible effect of this mutation. These analyses revealed the presence of a putative binding site for Egr1, a transcription factor, within the HBB:-92 region. Our literature survey suggests a close relationship between different phenotypic manifestations of β-thalassaemia and Egr1 expression.

Keywords : Hb Monroe; HBB: -92C>G; transcription factor; Egr1.

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