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Hereditary hemochromatosis and ferroportin disease

Sandro Altamura1,*

1MMPU - Molecular Medicine Partnership Unit, Heidelberg, Germany

Hereditary hemochromatosis (HH) is a common iron overload disorder with a prevalence of 0.44% in non-Hispanic white people. Systemic iron homeostasis is maintained by the hepcidin/ferroportin regulatory circuitry. Hepcidin is a small peptidic iron hormone secreted by the liver in response to increased systemic iron levels or inflammatory stimuli. Hepcidin binds to ferroportin, the only known iron exporter, inducing its internalization and degradation thus reducing iron export and controlling systemic iron availability. In HH, mutations cause either an inadequate hepcidin production or render ferroportin resistant to hepcidin action. As a consequence dietary iron uptake is increased causing toxic iron accumulation in vital organs. The most common pathologies include the development of cirrhosis and hepatocellular carcinomas, diabetes mellitus, cardiomyopathy, hypogonadism and  bone and joint diseases.

My presentation will be focused on the mechanisms that regulate systemic iron homeostasis, with a particular attention to the role of ferroportin as the downstream effector of hepcidin.

Keywords: Inborn error of metabolism