Hemochromatosis - too much Iron

H & auml;mochromatose ist eine der h & auml;ufigsten genetischen Erkrankungen in Europa, gekennzeichnet durch eine fortschreitende Eisen & uuml;berladung. Sie resultiert h & auml;ufig aus Mutationen im HFE -Gen, besonders der p.C282Y-Variante. Diese Krankheit kann zu schweren Organmanifestationen f & uuml;hren, wenn sie unbehandelt bleibt. Dieser Artikel bietet einen & Uuml;berblick & uuml;ber Diagnose und Therapie der H & auml;mochromatose. Hemochromatosis is a disorder of genetic origin which affects iron hemostasis, resulting in an increased transferrin saturation, hyperferritinemia and parenchymal iron overload. Recently, a new system for the classification of hemochromatosis has been proposed, wherein patients are separated into 4 groups, based on the disease affected iron regulatory genes. Excess iron and increased transferrin saturation results in the formation of non-transferrin bound iron which leads to tissue damage. Hemochromatosis is a common genetic disease, but screening of the general population is not routinely recommended. In order to provide ideal care for hemochromatosis patients, it is crucial to delineate hemochromatosis from other causes of hyperferritinemia, which is a common finding in patients with metabolic disorders. This article summarizes the diagnostic algorithm for hemochromatosis. Furthermore, recommendations for optimal care - including targets for phlebotomy - are discussed.