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Article

A novel ferroportin mutation in a Canadian family with autosomal dominant hemochromatosis.

Blood cells, molecules & diseases - 1 Jan 2000

Morris Tara J, Litvinova Mariya M, Ralston Diana, Mattman Andre, Holmes Daniel, Lockitch Gillian

Abstract excerpt

We report a new mutation, Asn185Asp, in exon 6 of the ferroportin gene (FPN1) in 15 members of three successive generations of a Canadian family of Scandinavian origin with autosomal dominant hemochromatosis. Hyperferritinemia with low transferrin saturation was noted in younger family members, seven of whom were aged 20 years or less at the time of diagnosis. In those individuals first diagnosed with...

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Identifiers

PMID: 16111902
DOI: 10.1016/j.bcmd.2005.07.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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