[HTML][HTML] Role of HFE gene mutations on developing iron overload in β-thalassaemia carriers in Egypt

HA Madani, RA Afify, AA Abd El-Aal, N Salama… - EMHJ, 1995 - emro.who.int
HA Madani, RA Afify, AA Abd El-Aal, N Salama, N Ramy
EMHJ, 1995emro.who.int
A case–control study aimed to determine the prevalence of C282Y, H63D and S65C
mutations of the HFE gene in β-thalassaemia carriers and investigate their influence on iron
absorption. A total of 41 β-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 …
Abstract
A case–control study aimed to determine the prevalence of C282Y, H63D and S65C mutations of the HFE gene in β-thalassaemia carriers and investigate their influence on iron absorption. A total of 41 β-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 β-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 β-thalassaemia carriers compared with normal controls.
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