Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations

Br J Haematol. 2002 Sep;118(4):1179-82. doi: 10.1046/j.1365-2141.2002.03690.x.


Hereditary hyperferritinaemia-cataract syndrome (HHCS) (OMIM #600886) is a rare autosomal dominant condition identified by high serum ferritin levels with normal iron saturation and distinctive bilateral cataract. It may be misdiagnosed as haemochromatosis and such patients become anaemic as a result of inappropriate venesection. The elevated serum ferritin is due to a mutation in the iron-responsive element (IRE) of the l-ferritin gene, resulting in excessive l-ferritin production. We report the identification of three Australian pedigrees; one with a previously described mutation at position 40, a pedigree with a novel mutation at position 39 and an individual with a de novo mutation at position 32 of the l-ferritin IRE.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Australia
  • Cataract / blood*
  • Child
  • DNA Mutational Analysis
  • Female
  • Ferritins / blood*
  • Ferritins / genetics
  • Humans
  • Iron-Regulatory Proteins / genetics
  • Male
  • Middle Aged
  • Pedigree
  • Syndrome


  • Iron-Regulatory Proteins
  • Ferritins

Associated data

  • OMIM/600886