Haemochromatosis and Other Inherited Diseases of Iron Metabolism

Abstract

Haemochromatosis was described centuries ago, yet the biological mechanisms involved were delineated only recently. Mutation in genes involved in iron metabolism (HFE in the most frequent form) leads to systemic iron overload which particularly affect the liver, pancreas, heart, joints, and pituitary. This can lead to cirrhosis, hepatocellular carcinoma, diabetes, heart failure, hypogonadism, and arthropathy. The diagnosis now relies on definite genetic testing, allowing earlier diagnosis and family screening. This chapter looks at how this lifelong treatment is based on bloodletting to normalize body iron stores and, provided it is initiated before the onset of massive iron overload, allows a normal life expectancy.