The variable expressivity of HFE-HH is related to sex and dietary factors; however, other mutations, and environmental factors such as steatosis and viral hepatitis may also contribute to clinical ...

Iron regulation in the body is primarily controlled by the hormone hepcidin, which interacts with the human homeostatic iron regulator or HFE protein to maintain iron balance. Mutations in the HFE ...

Loss-of-function mutations of the HFE gene lead to an autosomal recessive iron-overload disorder referred to as hereditary hemochromatosis (HH). Excessive hepatic iron accumulation is observed in ...