Role of HFE gene mutations on developing iron overload in beta thalassaemia carriers in Egypt
EMHJ-Eastern Mediterranean Health Journal. 2011; 17 (6): 546-551
em Inglês
| IMEMR
| ID: emr-159079
ABSTRACT
A case-control study aimed to determine the prevalence of C282Y, H63D and S65C mutations of the HFE gene in beta thalassaemia carriers and investigate their influence on iron absorption. A total of 41 beta-thalassaemia carriers and 40 control subjects without haemoglobinopathies were screened for the C282Y, H63D and S65C mutations by polymerase chain reaction-restriction fragment-length polymorphism. The iron status in these subjects was studied and correlated with the HFE gene mutations. H63D, S65C and C282Y allele frequencies were 30.5%, 13.4% and 7.3% respectively in [3-thalassaemia carriers and 10.0%, 2.5% and 0.0% respectively in the control group. Compound heterozygosis was found in 10 carriers [24.4%]. The transferrin saturation level was high in compound heterozygote cases. Our study has shown that the HFE gene mutations are common in Egypt among beta-thalassaemia carriers compared with normal controls
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Estudos de Casos e Controles
/
Reação em Cadeia da Polimerase
/
Talassemia beta
/
Genótipo
/
Heterozigoto
/
Mutação
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
East Mediterr Health J.
Ano de publicação:
2011
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