Hereditary haemochromatosis (HFE) is a genetic disorder characterized by excessive absorption of dietary iron by the body. This condition leads to an accumulation of iron in various organs, particularly the liver, heart, and pancreas. HFE is primarily caused by mutations in the HFE gene, which regulates the body's iron absorption.
Individuals with HFE hereditary haemochromatosis may experience a range of symptoms, including fatigue, joint pain, abdominal pain, and weakness. If left untreated, this condition can result in serious complications such as liver disease, heart problems, and diabetes.
Diagnosis of HFE hereditary haemochromatosis involves genetic testing to identify the specific mutations in the HFE gene. Treatment typically involves regular blood removal (phlebotomy) to reduce iron levels in the body. This helps prevent organ damage and manage symptoms.
Early detection and treatment of HFE hereditary haemochromatosis are crucial in preventing long-term complications. It is important for individuals with a family history of the condition to undergo genetic testing and consult with healthcare professionals for appropriate management.