Introduction to hereditary haemochromatosis

Hereditary haemochromatosis is an inherited disorder in which excessive intestinal iron absorption can lead to iron overload. It is an autosomal recessive disorder usually associated with mutations in the HFE gene, and most commonly affects people of northern European descent.

Although hereditary haemochromatosis is often asymptomatic, undiagnosed disease can result in progressive iron accumulation and severe multiorgan damage in adulthood. Organ damage can include liver fibrosis or cirrhosis, hepatocellular carcinoma, cardiac arrhythmias, cardiomyopathy, diabetes, arthropathy, hypogonadism and skin hyperpigmentation. Early diagnosis and appropriate venesection therapy is key to preventing these complications.

Resources for health professionals and patients are available on the Haemochromatosis Australia website.