[Hemochromatosis--from an underdiagnosed curiosity to a common disease]

Abstract

Background: Hemochromatosis is a common disease with a good prognosis, when diagnosed early and treated appropriately. The aim of this overview is to give updated information on hemochromatosis with special focus on biochemical features, diagnosis and treatment.

Material and methods: This article is based on our own experience and a review of available literature in various databases such as PubMed and Medline.

Results: Hereditary hemochromatosis is an autosomal recessive disease characterized by iron overload due to increased intestinal iron uptake over many years. Hemochromatosis is often discovered through coincidental detection of high levels of transferrin and/or ferritin. The early symptoms are asthenia and joint pain. About 85 % of patients with hereditary hemochromatosis are homozygote for the C282Y mutation in the HFE: gene, but the majority of homozygotes remain asymptomatic. With ferritin levels > 500 microg/, both hereditary hemochromatosis and iron overload (of unknown cause) are treated with blood-letting.

Interpretation: The pathogenesis is not fully elucidated but recent reports indicate that the protein hepcidin (produced in the liver) plays a key role in the development of hemochromatosis. Iron overload may also be secondary to other diseases such as thalassemia and other conditions requiring multiple long-term blood transfusions. The goal is to maintain ferritin values at approximately 20 - 50 microg/L.