title: Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient.
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.
authors.affiliation: Department of Genetic Engineering & Biotechnology, University of Dhaka, Dhaka, Bangladesh.
authors.forename: Mahdi Muhammad
authors.initials: MM
authors.lastname: Moosa
authors.forename: Mustak Ibn
authors.initials: MI
authors.lastname: Ayub
authors.forename: Ama Emran
authors.initials: AE
authors.lastname: Bashar
authors.forename: Golam
authors.initials: G
authors.lastname: Sarwardi
authors.forename: Waqar
authors.initials: W
authors.lastname: Khan
authors.forename: Haseena
authors.initials: H
authors.lastname: Khan
authors.forename: Sabina
authors.initials: S
authors.lastname: Yeasmin