Haemochromotosis Part 2

Eamonn Brady is a pharmacist and the owner of Whelehans Pharmacy, Pearse St, Mullingar. If you have any health questions e-mail them to info@whelehans.ie

This is the conclusion to last week’s article on haemochromatosis. To re-cap haemochromatosis is a hereditary condition caused by the body’s iron levels building up excessively. It can also be referred to as “iron overload disorder”.

Diagnosis

Many of the usual symptoms of haemochromatosis are similar to other conditions meaning it can be tricky diagnosing. Haemochromatosis is often diagnosed during unrelated blood tests. There is a one in four chance of developing haemochromatosis if a close blood relative (parent, sibling) is diagnosed.

Blood tests

Blood tests are used to diagnose haemochromatosis and the two blood tests that can diagnose include transferrin saturation (reveals how much iron is readily available to use by the body; transferrin saturation levels of below 45% may indicate haemochromatosis) and serum ferritin (determines the amount of iron in storage in the body)

If you have increased transferrin saturation the next step can be to take a sample of DNA to check for HFE gene mutation. Serum ferritin is the most commonly used blood test for haemochromatosis as it is a very sensitive test for excess iron and normal ferritin levels essentially rules out haemochromatosis.

A liver biopsy may be performed if tests show high enzymes that indicate liver damage; however thankfully most people are diagnosed early before liver damage is done so liver biopsy is rarely needed. Alcohol abuse is another reason for ordering a liver biopsy. Raised ferritin levels can also result from other unrelated conditions including alcohol abuse, diabetes mellitus and other liver conditions.

Treatment

Treatment is quite simple. It involves regularly removing blood from the body which has the effect of reducing the body’s iron levels. Blood is removed in the same manner that we give a blood donation (technique is called a phlebotomy which involves taking blood from a vein). About 400 to 500ml of blood (200-250mg) is taken on each occasion which again is similar to a blood donation.

Phlebotomy therapy has two stages. First is the induction stage (blood is taken usually weekly until iron levels return to normal. Can take up to 12 months); second is maintenance stage (blood is removed less regularly, generally every two to four months, to maintain iron at normal levels).

Some GP surgeries offer a phlebotomy service otherwise you will be referred to a hospital to undergo the service. Should a haemochromatosis sufferer wish to donate blood, the Irish Blood Transfusion Board currently runs a dedicated clinic one day per week especially for haemochromotosis patients who meet the criteria of donating blood. However, you must be referred by your GP to avail of this service.

 On some rare occasions a person cannot undergo phlebotomy for medical reasons. When this happens, a treatment called chelation therapy using a tablet called deferasirox is an alternative treatment option. Deferasirox works by binding to iron in the body and then excreting it from the body via urine or stools. Side effects can include nausea and diarrhoea.

This article is shortened to fit within Newspaper space limits. More detailed information and leaflets is available in Whelehans