Hereditary haemochromatosis is common, affecting one in 200 Australians of
Anglo-Celtic descent; it results in iron overload affecting many organs, in
cluding the liver, heart, endocrine and musculoskeletal system.
Diagnosis requires a high index of suspicion, as presenting symptoms and si
gns may be non-specific.
Once suspected, hereditary haemochromatosis can be readily diagnosed by mea
surement of serum transferrin saturation and ferritin level, followed by ge
netic assessment.
Homozygosity for the C282Y mutation in the HFE gene accounts for most cases
in people of Anglo-Celtic descent in Australia; a genetic test for this mu
tation is widely available.
Liver biopsy is advocated only in selected individuals at risk of cirrhosis
or with an unclear diagnosis.
Therapeutic phlebotomy remains the treatment and, if instituted early, will
prevent many of the organ-specific complications.