RESUMO
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 beta-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 HFEgene mutations are common in Egypt among beta-thalassaemia carriers compared with normal controls.
Assuntos
Antígenos de Histocompatibilidade Classe I/genética , Sobrecarga de Ferro/etiologia , Ferro/metabolismo , Proteínas de Membrana/genética , Talassemia beta/genética , Portador Sadio , Estudos de Casos e Controles , Egito , Feminino , Proteína da Hemocromatose , Humanos , Mutação , Reação em Cadeia da Polimerase , Talassemia beta/complicações , Talassemia beta/metabolismoRESUMO
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
