What is Haemochromatosis (Iron overload)?

by

Dr Zaid Ismail

Hereditary haemochromatosis is a common autosomal recessive disorder causing increased intestinal iron absorption, leading to iron overload.

Epidemiology

  • Prevalence: 1 in 150–200 people in the UK are homozygous for C282Y.
  • More common in individuals of northern European descent.
  • Men are more likely to develop symptoms due to lack of physiological iron loss.

Clinical Features

Often asymptomatic early on. Consider in patients with:

  • Fatigue
  • Arthralgia (especially second and third MCP joints)
  • Skin pigmentation
  • Diabetes mellitus
  • Liver abnormalities (raised ALT/AST)
  • Cardiomyopathy
  • Hypogonadism
  • Family history of haemochromatosis

Red Flags

  • Cirrhosis or hepatocellular carcinoma in undiagnosed iron overload
  • Heart failure in younger adults without other risk factors

Investigations

  1. Ferritin – raised in most symptomatic cases.
  2. Transferrin saturation – >45% is suggestive.
  3. Genetic testing – confirmatory for HFE mutations.
  4. Liver ultrasound and/or FibroScan – to assess for fibrosis/cirrhosis.
  5. Exclude other causes of raised ferritin (e.g. alcohol, metabolic syndrome, inflammation).

Management

  • Referral to hepatology or a metabolic specialist for diagnosis confirmation and management plan.
  • Venesection is first-line to reduce iron overload.
  • Monitor ferritin and transferrin saturation regularly.
  • Lifestyle advice: avoid iron supplements, vitamin C excess, and limit alcohol.

GP Role

  • Early recognition and testing in appropriate cases.
  • Cascade screening in first-degree relatives.
  • Annual review of diagnosed cases if discharged from secondary care.

Guidelines

Categories