Haemochromatosis

• State of iron overload → haemosiderin deposits in the liver, pancreas, heart, adrenal glands, testes and pituitary gland
• Primary haemochromatosis: HFE mutation → excessive iron absorption from the diet
• Secondary haemochromatosis: patients receiving chronic transfusion (sickle cell disease, thalassaemia)

Signs and symptoms

• Bronze diabetes (Bronze skin pigmentation and diabetes mellitus)
• Other symptoms: abdominal pain (cirrhosis), heart failure symptoms, arthralgia (arthropathy of the metacarpophalangeal joints), impotence (testicular atrophy, hypogonadism)
• Note: haemochromatosis spares the lungs, eyes and kidneys

Investigation

• Iron studies: ↑ iron, ↑ ferritin, ↑ transferrin saturation > 45%, ↓ transferrin
• HFE gene mutation screen
• Liver biopsy can reveal high hepatic iron index
• MRI liver

Management

• Regular phlebotomy
• Iron chelation e.g., deferoxamine, deferiprone, deferasirox