Haemochromatosis: investigation and management

Haemochromatosis is an autosomal recessive disorder of iron absorption and metabolism resulting in iron accumulation. It is caused by the inheritance of mutations in the HFE gene on both copies of chromosome 6.

Screening for iron overload

There is continued debate about the best investigation to screen for haemochromatosis.

• general population
  • transferrin saturation is considered the most useful marker
  • ferritin should also be measured but is not usually abnormal in the early stages of iron accumulation
• testing family members
  • genetic testing for HFE mutation

These guidelines may change as HFE gene analysis become less expensive

Typical iron study profile in patient with haemochromatosis

• transferrin saturation > 55% in men or > 50% in women
• raised ferritin (e.g. > 500 ug/l) and iron
• low TIBC

Further tests and diagnosis

Further tests

• liver function tests
• molecular genetic testing for the C282Y and H63D mutations
• MRI is generally used to quantify liver and/or cardiac iron
• liver biopsy is now generally only used if suspected hepatic cirrhosis

Management

Outline

• venesection is the first-line treatment
  • monitoring adequacy of venesection: transferrin saturation should be kept below 50% and the serum ferritin concentration below 50 ug/l