Diagnosis and management of hereditary haemochromatosis

Abstract

Hereditary haemochromatosis is an autosomally recessive inherited genetic disorder associated with a defect in the iron regulating hormone hepcidin, causing increased intestinal absorption of iron and subsequent deposition in the liver, pancreas, heart, joints, skin, and gonads. Mutation in the human haemochromatosis protein (HFE) gene is the most common problem and was first described in 1996.1 The majority of patients with HFE haemochromatosis express C282Y homozygosity, which accounts for 80%–85% of individuals with hereditary haemochromatosis. This mutation has a prevalence of 1 in 220–250 in the northern European population in which it is most commonly found.2 The other commonly found mutation is H63D but this is not associated with iron overload unless with C282Y as the compound heterozygote, C282Y/H63D which accounts for approximately 5% of patients with hereditary haemochromatosis.2 There are other mutations of non-HFE genes resulting in iron overload syndromes but these are rare. A GP list of 2000 patients will have approximately four patients with hereditary haemochromatosis. Despite this, many GPs have never seen …