Diagnosing haemochromatosis

The inherited form of haemochromatosis is now considered a relatively common genetic disorder: in western countries it affects about one in 300 people, mostly people of Northern European and particularly Celtic backgrounds, and is more common in men than women. About one in 10 people are carriers.

Diagnosis can be difficult as many of the symptoms of haemochromatosis are a sign of other conditions. Several diagnostic tests are possible:

  • Transferrin saturation: this tests whether transferrin, one of the proteins in the blood, is bound up with abnormally large amounts of iron.
  • Serum ferritin: the ferritin protein stores iron in tissues and small amounts are normally found in blood serum. If iron starts accumulating in the body, serum ferritin levels also tend to rise.
  • Genetic testing for the mutant HFE gene using blood is the definitive test for haemochromatosis and can also be used to identify family members at risk.

Once a positive diagnosis of haemochromatosis has been made, liver function tests and perhaps a liver biopsy can be done to find out just how much damage the liver has sustained.

This involves having a hollow needle injected into your liver under local anaesthetic to collect a small plug or sample of liver tissue trapped inside the needle.

Treating haemochromatosis

Haemochromatosis treatment is straightforward. It involves taking blood a pint at a time to deplete the body’s iron stores in a procedure called venesection. A typical schedule could involve taking a pint of blood each week until serum ferritin levels are at the lower end of the normal range.

Further bleeding is then needed a few times a year to prevent iron levels building up again: transferrin saturation and serum ferritin tests are used to plan the schedule for each patient.

Treatment will help with symptoms such as fatigue and abdominal pain, and prevent further organ damage, but cannot usually reverse complications such as diabetes or cirrhosis. These may require further specialist treatment.

People with haemochromatosis are often advised to reduce their iron intake as far as possible by:

  • Only eating small quantities of red meat and liver.
  • Avoiding vitamin or iron supplements or foods fortified with iron.
  • Not using iron pans and cooking pots.
  • Reducing vitamin C intake.
  • Minimising alcohol intake as this can increase iron absorption from food.
  • Drinking tea and dairy products with meals can block iron absorption to some extent.