HAEMOCHROMATOSIS
An Iron Overload Disorder - what is the treatment?
 

The simple and effective treatment consists of regular removal of blood. Known as venesection therapy or phlebotomy, the procedure is the same as for blood donors. Every pint of blood removed contains a quarter of a gram of iron.
The body then uses some of the excess stored iron to make new red blood cells. Venesection will usually be performed once a week, depending on the degree of iron overload. Treatment may need to be continued at this frequency for up to 2 years, occasionally longer.
During the course of treatment, the serum ferritin levels are monitored, indicating the size of the remaining iron stores. Treatment should usually continue until the serum ferritin level reaches 20µg/l (indicating minimal or absent iron stores).

This is not the end of the story. Excess iron will continue to be absorbed so the individual will need occasional venesections (maintenance therapy), on average every 3 to 4 months, for the rest of his or her life. Monitoring of transferrin saturation and serum ferritin is used to assess whether venesection is required more or less often. The transferrin saturation should be maintained below 50% and the serum ferritin below 50µg/l.

The graph on the right gives an example of how treatment may affect blood iron levels during treatment. Serum ferritin decreases steadily, but transferrin saturation remains high until iron deficiency occurrs, then falls sharply.

How effective is treatment?

Venesection treatment will cause tissue iron to be mobilised and iron stores will return to normal. However, it will not cure some serious clinical conditions such as diabetes or cirrhosis if they are already present at the time treatment is started. This emphasises the need for early diagnosis.

Fatigue, lethargy and abdominal pain should decrease.
Cardiomyopathy should improve providing cardiac damage is not severe. In severe cases iron chelation treatment can reverse congestive heart failure.
Bronzing of the skin should fade.
Cirrhosis will stay the same.
Sexual dysfunction and arthritis do not usually improve. Indeed arthritis may appear later even if absent at the time of diagnosis and treatment.
Providing there is not a massive, long-standing iron overload present at the time treatment is started; those who undergo treatment have a normal life expectancy.