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Screening, Investigating and Managing Haemochromatosis

Jon Watson MA MB Bch MRCP, PhD, FRACP

Usually developing in patients aged between 30 and 60 years, haemochromatosis can lead to severe systemic complications if untreated. Here Dr Watson outlines his approach to those conditions.

• 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 he 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.
• In practical terms, the commonest genotype encountered on a day to day basis is type 1 hereditatry haemochromatosis arising from mutations in the HFE gene. HFE is inherited as an autosomal recessive trait. C282Y is the most common mutation in this gene and is present in about 12% of the Australian population. The H63D mutation is the next most common mutation. The frequency of C282Y homozygosity is approximately 1:300. Only individuals who are C282Y homozygous or C282Y/H63D compound heterozygous express iron overload secondary to hereditary haemochromatosis.

Investigation for Haemochromatosis

Should be performed when clinical suspicion exists or when relatives of an index case present for screening.