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Title: Role of HFE gene mutations on developing iron overload in beta thalassaemia carriers in Egypt
Authors: Madani, H.A.
Afify, R.A.
Abdel Aal, A.A.
Salama, N.
Ramy, N.
Issue Date: 2011
Language: English
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
Description: 546-551
Keywords: Mutation
Case-Control Studies
Polymerase Chain Reaction
Subject: Iron Overload
ISSN: 1020-3397
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Appears in Collections:EMRO Journal Articles (EMHJ)

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