Abstract Haemochromatosis is a genetic disorder of iron homeostasis. It can be caused by mutations in genes encoding the iron-regulatory hormone hepcidin ( HAMP ), and/or genes that regulate hepcidin expression ( HFE , HJV , TFR2 ), or a gain-of-function mutation in the gene encoding hepcidin receptor ferroportin ( FPN1/SLC40A1 ). HFE-related haemochromatosis is prevalent predominantly in individuals of northern European descent. These mutations result in dysregulated levels or activity of hepcidin, leading to high iron-saturation of transferrin followed by progressive liver iron accumulation in the absence of anaemia. To enable and enhance the understanding of haemochromatosis in both researchers and prospective medics, this review collates and discusses the genetic basis and consequent pathophysiology of the different types of haemochromatosis within a single, comparative review. The discussion is supported by figures and a summary table that co
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