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

Genetics and Molecular Biology

Mahdi Muhammad Moosa²  Mustak Ibn Ayub²  Ama Emran Bashar²  Golam Sarwardi¹  Waqar Khan¹  Haseena Khan¹  Sabina Yeasmin² 

[1] ,University of Dhaka Department of Genetic Engineering & Biotechnology Dhaka,Bangladesh

关键词: Hb Monroe;    HBB: -92C>G;    transcription factor;    Egr1;   

DOI  :  10.1590/S1415-47572011005000026

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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