HFE mutations, iron deficiency and overload in 10,500 blood donors

Jackson, H. A., Carter, Kymberley, Darke, C., Guttridge, M. G., Ravine, D., Hutton, R. D., Napier, J. A. and Worwood, Mark 2001. HFE mutations, iron deficiency and overload in 10,500 blood donors. British Journal of Haematology 114 (2) , pp. 474-484. 10.1046/j.1365-2141.2001.02949.x

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Abstract

People with genetic haemochromatosis (GH) accumulate iron from excessive dietary absorption. In populations of northern European origin, over 90% of patients are homozygous for the C282Y mutation of the HFE gene. While about 1 in 200 people in the general population have this genotype the proportion who develop clinical haemochromatosis is not known. The influence of HFE genotype on iron status was investigated in 10 556 blood donors. The allele frequencies of the C282Y and H63D mutations were 8

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	HFE mutations ; Iron deficiency ; Iron overload ; Population screening
ISSN:	1365-2141
Last Modified:	19 Mar 2016 22:01
URI:	https://orca.cardiff.ac.uk/id/eprint/401

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