Hereditary haemochromatosis, also known as HFE, is a genetic disorder characterized by excessive absorption of dietary iron by the body. This condition leads to the accumulation of iron in various organs, including the liver, heart, pancreas, and joints. If left untreated, it can result in serious complications such as liver cirrhosis, diabetes, heart problems, and joint pain.
Synonyms for hereditary haemochromatosis include:
These terms are often used interchangeably to refer to the same condition. It is important to note that hereditary haemochromatosis is primarily caused by mutations in the HFE gene, which regulates the body's iron absorption. The most common mutation associated with this disorder is called C282Y, but other mutations such as H63D and S65C can also contribute to its development.
Early detection and treatment of hereditary haemochromatosis are crucial to prevent complications. Diagnosis typically involves blood tests to measure iron levels and genetic testing to identify HFE gene mutations. Treatment may include regular blood removal (phlebotomy) to reduce iron levels, dietary changes to limit iron intake, and in some cases, medication to help manage iron absorption.
It is important for individuals with hereditary haemochromatosis to work closely with healthcare professionals, such as geneticists, hepatologists, and hematologists, to develop a personalized management plan. With proper care and monitoring, individuals with hereditary haemochromatosis can lead healthy lives and minimize the impact of iron overload on their overall well-being.