Overview
Haemochromatosis is a genetic condition in which the body absorbs and stores too much iron, leading to iron overload that can damage organs such as the liver, heart, and pancreas.
Symptoms
Fatigue and weakness Joint pain Abdominal pain Unexplained weight loss Bronze or gray skin pigmentation Heart problems (arrhythmias or cardiomyopathy) Diabetes due to pancreatic damage
Causes
Inherited mutations in the HFE gene (most common) Secondary causes include repeated blood transfusions or chronic liver disease Excessive dietary iron intake rarely contributes
Diagnosis
Blood tests: serum ferritin, transferrin saturation Genetic testing for HFE mutations Liver biopsy in some cases to assess organ damage Imaging tests like MRI to check iron accumulation in organs
Treatment
Phlebotomy (regular blood removal) to reduce iron levels Iron chelation therapy if phlebotomy is not possible Dietary modifications to limit iron intake and avoid vitamin C supplements that increase absorption Treatment of organ complications such as liver disease or diabetes
Complications
Liver cirrhosis and liver cancer Heart disease and arrhythmias Diabetes mellitus Arthritis and joint damage
Prevention
Early genetic testing in families with history of haemochromatosis Avoid excessive iron supplementation without medical advice Regular monitoring of iron levels in at-risk individuals