Combination of two rare mutations causes β -thalassaemia in a Bangladeshi patient
Genet. mol. biol
;
34(3): 406-409, 2011. ilus
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Factores de Transcripción de la Respuesta de Crecimiento Precoz
/
Proteína 1 de la Respuesta de Crecimiento Precoz
Tipo de estudio:
Estudio de etiología
/
Estudio pronóstico
Idioma:
Inglés
Revista:
Genet. mol. biol
Asunto de la revista:
Genética
Año:
2011
Tipo del documento:
Artículo
País de afiliación:
Bangladesh
Institución/País de afiliación:
Dhaka Shishu Hospital/BD
/
University of Dhaka/BD
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