Mutations in genes leading to hepcidin deficiency lead to haemochromatosis, a clinical syndrome characterized by dysregulated iron metabolism and cellular iron overload. This Primer by Brissot and colleagues discusses the aetiology, epidemiology and diagnosis of haemochromatosis and describes patient management and quality of life.
- Pierre Brissot
- Antonello Pietrangelo
- Olivier Loréal
