Role of HFE gene mutations on developing iron overload in beta thalassaemia carriers in Egypt
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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
Citation
Madani, H.A., Afify, R.A., Abdel Aal, A.A., Salama, N. & Ramy, N. (2011). Role of HFE gene mutations on developing iron overload in beta thalassaemia carriers in Egypt. EMHJ - Eastern Mediterranean Health Journal, 17 (6), 546-551, 2011, https://iris.who.int/handle/10665/118656
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EMHJ - Eastern Mediterranean Health Journal, 17 (6), 546-551, 2011
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546-551
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1020-3397
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http://www.emro.who.int/emhj/V17/06/17_6_2011_0546_0551.pdf
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English