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The diagnosis and management of hereditary haemochromatosis

Paul Clark1, Laurence J Britton, Lawrie W Powell

  • 1Department of Gastroenterology and Hepatology, Princess Alexandra Hospital, Brisbane, Australia.

The Clinical Biochemist. Reviews
|February 25, 2010
PubMed

Hereditary haemochromatosis (HH) is a common genetic disorder of iron metabolism in individuals of Northern European ancestry which leads to inappropriate iron absorption from the intestine and iron overload in susceptible individuals. Iron overload is suggested by elevations in serum ferritin and transferrin saturation. The majority of patients with clinically significant iron overload are homozygous for the C282Y mutation of the HFE gene, however only a minority of C282Y homozygotes fully express the disease clinically. Those with a high serum ferritin (>1000 microg/L) and additional hepatic insults from cofactors are more likely to develop cirrhosis and its complications. The mainstay of treatment is venesection. Those without cirrhosis who undergo appropriate venesection have a normal life expectancy. Family screening is recommended for all first degree relatives of an individual with the disease.

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