Serum ferritin can be elevated in inflammatory and carcinomatous conditions, as well as liver diseases other than haemochromatosis, such as alcoholic liver disease. The diagnosis is confirmed by liver biopsy. Histology of sections stained with Perls' stain shows the characteristic pattern of parenchymal iron overload. Measurement of the dry liver iron weight, if available, is also valuable as 'hepatic iron index' can be calculated. HLA typing can be used to confirm the diagnosis in siblings of an index case.
Treatment is with regular venesection, usually once per week, until iron stores are depleted.
Maintenance venesection is then required, usually two to four times per year. Discussion Genetic haemochromatosis is an autosomal recessive inherited disorder of iron metabolism involving an inappropriately high level of iron absorbtion from the small bowel. Although not yet cloned, the gene is known to lie close to the HLA locus on the short arm of chromosome 6 and they are almost invariably inherited together. Untreated, iron gradually accumulates in a variety of tissues, and can eventually result in organ failure and the protean clinical signs and symptoms of the disease. The classical triad of pigmentation, diabetes mellitus and cirrhosis, however, represents only the most severe end of a spectrum of clinical disease expression and haemochromatosis schould be considered in the differential diagnosis of a wide variety of symptoms and presentations as showm in box 1.