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. 2011 Jul;34(3):406-9.
doi: 10.1590/S1415-47572011005000026. Epub 2011 Jul 1.

Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient

Mahdi Muhammad Moosa  1 , Mustak Ibn Ayub, Ama Emran Bashar, Golam Sarwardi, Waqar Khan, Haseena Khan, Sabina Yeasmin
Affiliations

Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient

Mahdi Muhammad Moosa et al. Genet Mol Biol. 2011 Jul.

Abstract

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

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Figures

Figure 1
Figure 1
Putative Egr1 binding site present at the mutation site. Transcription factor binding site predicted by AliBaba2.1 program (Grabe, 2002), using the TRANSFAC (Wingender et al., 1996) database.
See this image and copyright information in PMC

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