Hereditary Haemochromatosis


Hereditary haemochromatosis

  1. Autosomal recessive genetic disease

  2. Increased intestinal absorption of iron causes accumulation in the tissues

  3. The liver is primarily affected and may result in cirrhosis

  4. Symptoms and signs are initially non-specific, often leading to late presentation

  5. Fatigue and arthropathy are common presenting symptoms

Presenting signs/ symptoms

  1. Diabetes

  2. Bronzing of skin

  3. Hepatomegaly

  4. Arthropathy ( 2nd & 3rd MCP joints