TITLE

ATYPICAL HAEMOCHROMATOSIS ASSOCIATED WITH NOVEL MUTATIONS IN THE FERROPORTIN GENE

AUTHOR(S)
Griffiths, W. J. H.; Mocfarlane, I.; Halsall, D.; Davies, S.; Cox, T. M.
PUB. DATE
April 2004
SOURCE
Gut;Apr2004 Supplement 3, Vol. 53, pA11
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
The genetic basis of non-HFE haemochromatosis is being unravelled. Mutations in the ferroportin gene, which encodes a cellular iron-export protein, account for the dominantly inherited HFE4 variant characterised by high ferritin, low transferrin saturation, early Kupffer cell iron loading, and poor venesection tolerance. Authors describe two novel ferroportin mutations in three cases of non-HFE haemochromatosis with HFE4 phenotype. Ferroportin gene analysis was performed by fluorescent dye terminator PCR cycle sequencing with capillary electrophoresis.
ACCESSION #
13218856

 

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