Site of principal metabolic defect in idiopathic haemochromatosis: insights from transplantation of an affected organ.

Idiopathic haemochromatosis is an inherited defect of iron metabolism characterised by excessive iron absorption and deposition in the tissues leading to damage in the liver and other organs.' The nature of the fundamental metabolic abnormality remains unknown, but the liver and the gut have both been proposed as the principal site of expression of the metabolic defect.' We recently had the opportunity to study this question when a liver was transplanted from a donor who subsequently proved to have had presymptomatic idiopathic haemochromatosis into a young woman with normal iron metabolism. We describe here the changes in iron status observed in our patient in the first 29 months after liver transplantation.