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Chapter 4
Iron metabolism, iron overload, and the porphyrias
Iron is a mineral required by every living cell for DNA synthesis, oxygen transport, and respiration. Iron's ability to accept and donate electrons allows it to shuttle between ferrous (Fe2+) and ferric (Fe3+) oxidation states and is essential for its participation in a number of enzymatic reactions.
Despite the importance of iron to living cells, it can also be toxic. Iron catalyzes the formation of free radical ions, and therefore under physiologic states does not exist unbound to proteins or heme. Causes of iron overload include the repeated blood transfusions that are required to manage certain chronic anemias,
Regulation of iron homeostasis
Hereditary hemochromatosis and other iron overload syndromes
HFE hemochromatosis Epidemiology and pathophysiology Diagnosis Clinical presentation Treatment Screening Other forms of hemochromatosis Ferroportin disease Other causes of iron overload Iron chelation therapy
The porphyrias
Acute porphyrias Metabolic defects Acute intermittent porphyria Hereditary coproporphyria Variegate porphyria ALA dehydratase deficiency Clinical features Diagnostic algorithm Treatment Nonacute or cutaneous porphyrias Porphyria cutanea tarda Metabolic defect Clinical features Treatment Erythropoietic protoporphyria Metabolic defect Clinical features Therapy Congenital erythropoietic porphyria (Gunther disease) Metabolic defect Clinical features Treatment | ||||||||||||||||||||||||||||||||||||||||||||||||||