Haemochromatosis.
Iron is an important component of the Earth's crust, but its own chemistry greatly limits utilisation and also sets the basis for its toxicity. The capacity of readily exchanging electrons in aerobic conditions makes iron essential for fundamental cell functions, such as DNA synthesis, transport of oxygen and electrons, and cell respiration. On the other hand, as humans have no means to control iron excretion, excess iron, regardless of the route of entry, accumulates in parenchymal organs and threatens cell viability. In fact, a number of disease states (that is, iron overload diseases) attributable to genetic or acquired factors are pathogenetically linked to excess body iron stores and iron removal therapy is an effective lifesaving strategy in such circumstances.
Pietrangelo
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Department of Internal Medicine, University of Modena and Reggio Emilia, Italy. pietrangelo.antonello@unimo.it
D003663:Decision Trees; D005820:Genetic Testing / Q000379:methods; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D007501:Iron / Q000378:metabolism; D019190:Iron Overload / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron