Combination of two rare mutations causes β -thalassaemia in a Bangladeshi patient
Genet. mol. biol
;
34(3): 406-409, 2011. ilus
Article
in English
| LILACS
| ID: lil-595993
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 -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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Early Growth Response Transcription Factors
/
Early Growth Response Protein 1
Type of study:
Etiology study
/
Prognostic study
Language:
English
Journal:
Genet. mol. biol
Journal subject:
Genetics
Year:
2011
Type:
Article
Affiliation country:
Bangladesh
Institution/Affiliation country:
Dhaka Shishu Hospital/BD
/
University of Dhaka/BD
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