Article
HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors.
Blood cells, molecules & diseases - 1 Jan 2000
Arya N, Chakrabrati S, Hegele R A, Adams P C
Abstract excerpt
Two amino acid variants in the HFE gene, C282Y and H63D, have been reported in most cases of hereditary hemochromatosis. A recently discovered novel amino acid variant of HFE, namely S65C, has been implicated to be responsible for a mild form of iron overload. We determined genotypes of the HFE S65C variant in 230 voluntary blood donors with a transferrin saturation >45%, who did not carry the HFE C282Y variant....
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