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Haemochromatosis (HC) refers to a group of inherited disorders of iron metabolism characterized by progressive iron accumulation in parenchymal cells. If not recognized and treated, iron loading impairs the function of target organs and damages their structure. HC includes the historical and

Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent