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

Blood Cells Mol Dis. 2005 Nov-Dec;35(3):309-14. doi: 10.1016/j.bcmd.2005.07.007. Epub 2005 Aug 18.

Abstract

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 hemochromatosis in later life, marked hyperferritinemia was accompanied by high transferrin saturation. In contrast to the phenotype of high ferritin with low saturation first reported for ferroportin disease, this family demonstrates a phenotype of iron indices that varies with age.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Canada
  • Cation Transport Proteins / genetics*
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Disease Progression
  • Exons
  • Family Health
  • Female
  • Genes, Dominant
  • Hemochromatosis / diagnosis
  • Hemochromatosis / genetics*
  • Humans
  • Iron Overload / diagnosis
  • Iron Overload / etiology
  • Iron Overload / genetics
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Pedigree
  • Phenotype
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • Cation Transport Proteins
  • metal transporting protein 1