Screening, investigating and managing haemochromatosis

Remember

• Hereditary haemochromatosis is the most common inherited disease in Australia in people of Northern European descent. It is characterised by the deposition in various organs of excess iron (in the form of the iron-protein compound haemosiderin, formed by the polymerisation of ferritin). This leads to eventual fibrosis and functional organ failure.
• Great advances have been made in recent years in our understanding of the genetics of hereditary haemochromatosis, and it is now recognised as a common phenotype resulting from mutations in at least five unique genes.