Comparing the types of haemochromatosis- from genetics to clinics.

Abstract excerpt

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....

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