Haemochromatosis

“Body absorbs too much iron from diet”

Aetiology

• Primary hereditary Hemochromatosis on chromosome 6 (no regulation of how much iron is absorbed into the blood)
• Secondary (increased blood transfusions)

Pathophysiology

1. Increased iron absorption from the body
2. Deposition of Iron in liver, pancreas, skin, pituitary gland
3. Free radicals
4. Cellular damage
5. Tissue fibrosis

Clinical Presentation

• Fatigue
• Arthralgia
• Decreased libido
• Later: skin pigmentation, cirrhosis, cardiomyopathy, hypogonadism

Investigations

• FBC
• Increased LFTs
• Increased Fe
• Total binding capacity reduced (most occupied due to increased iron)
• Ferritin increased
• Increased transferrin saturation
• Liver biopsy

Management

• Venesection
• Bloodletting to reduce ferritin to <50mg/L every 2-3m for a lifetime

Complications

• Liver – Iron build-up, cirrhosis and Hepatocellular Carcinoma risk
• Pancreas – T1 Diabetes due to ß cell destruction
• Skin – bronze pigmentation
• Heart – CardiomyopathyJoint difficulties