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| Moosa,Mahdi Muhammad; Ayub,Mustak Ibn; Bashar,AMA Emran; Sarwardi,Golam; Khan,Waqar; Khan,Haseena; Yeasmin,Sabina. |
| 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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hb Monroe HBB: -92C>; G transcription factor Egr1. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300006 |
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