Hemochromatosis is a hereditary error of metabolism, which involves an increased absorption of iron from the intestine which again may result in the accumulation of iron and consequently to a damage of various organs, such as liver, pancreas, heart and joints. If the disease is not diagnosed and treated in good time, liver cirrhosis, liver cancer, diabetes mellitus and impotence can occur. In the case of hemochromatosis – in contrast to many other metabolic diseases – usually a single point mutation (C282Y) on the hemochromatosis gene (also called HFE gene) exists, which in homozygous form (passed on from father and mother) leads to the risk of iron overload with resulting diseases. The genetic variations on only one allele (passed on from either father or mother) can be found in up to 40% of the population in Central Europe. These „heterozygous“ individuals usually do not develop iron overload and do not have hemochromatosis.

n the course of their lives, even C282Y-homozygous carriers do not always develop iron deposits pronounced enough to become ill. The extent of the iron storage also depends on non-hereditary factors: women (menstrual bleeding), vegetarians (little iron in food) and alcohol abstainers (alcohol increases iron absorption in the intestine) are less likely to develop pathological iron overload. Even today, it remains unexplained how many of the homozygous individuals (0.5% of the Central European population are homozygous) really develop complications of iron overload in the course of their lives; for now, it is assumed that this is probably only the case in 30% or less. Nevertheless, hemochromatosis is one of the most common hereditary metabolic diseases. It has been known for some years that early detection and prophylactic iron removal by means of venesection therapy lead to a normal life expectancy and prevent almost all risks. Venesection therapy can also improve problems and increase and life expectancy in patients who have already suffered from the sequelae of iron overload. Therefore, all efforts made today are to the effect that patients with hemochromatosis are detected as early as possible and – if necessary – to provide preventative treatment. The most important laboratory tests ​​for the detection of hemochromatosis are ferritin and transferrin saturation. In hemochromatosis, both parameters ​​are significantly increased; Increased ferritin levels in conjunction with a normal transferrin saturation are usually not the result of hemochromatosis but have a different cause.

Changes in other genes of iron metabolism do occur, which can also lead to iron overload. However, these are very rare.

The Hämochromatose-Vereinigung Deutschland e.V. (HVD) (Hemochromatosis Association Germany e.V.) offers information, advice and help for hemochromatosis patients. HVD has its headquarters in Cologne, but also maintains points of presence in other federal states.
Address: Linder Weg 88 A, 51147 Köln (Cologne), Tel./Fax +49-2203-696531; Service-Tel./Fax 0700 48338674; www.haemochromatose.org

Prof. Dr. Claus Niederau
Katholisches Klinikum Oberhausen GmbH, St. Josef-Hospital
Academic Teaching Hospital of the University Duisburg-Essen
Mülheimer Str. 83, 46045 Oberhausen