Haemochromatosis - a modern clinician's guide

Haemochromatosis is an inherited disorder of iron metabolism affecting approximately 100 000 Australians. Iron overload may result in end organ dysfunction, most commonly manifesting as chronic liver disease, arthropathy and endocrinopathies. End organ complications can be prevented, minimised or reversed, with early diagnosis and initiation of treatment in the form of venesection. Our understanding of the pathogenesis and epidemiological characteristics of the disorder has evolved in recent decades, including identification of HFE gene variants and sex-specific differences in phenotypic expression of the disorder. This clinical perspective article summarises the up-to-date evidence regarding the pathophysiology, clinical manifestations and treatment recommendations for haemochromatosis.