Hereditary Haemochromatosis

Incidence

Hereditary Haemochromatosis is Ireland’s most common inherited disease and affects thousands of Irish adults. For someone to develop Haemochromatosis both their mother and father will have a defective gene.

In Europe as a whole between 1 in 300 and 1 in 400 people have the potential to develop iron overload. In Ireland by contrast recent studies show that the proportion of the population with susceptibility to iron overload is the highest in the world. 1 in 5 Irish people are carriers of the gene, and 1 in 83 people have two genes.

Signs and Symptoms

 The most common symptoms are:

  • Chronic fatigue, tiredness or lack of energy.
  • Joint pain, especially the first 2 finger joints but can be in any joint in the body.
  • Abdominal pain.
  • Sexual dysfunction - impotence is common in males and decreased libido in both males and females.
  • Skin pigmentation - many patients present with bronzing of the skin.
  • Palpitations.

Many patients find that these symptoms improve following the lowering of their iron but unfortunately this isn’t the case for everyone.

Diagnosis

A simple blood test, taken when you are fasting, is the best way to test if you have too much iron in your blood.

If these tests are above the normal level, a genetic test (a blood test) can be carried out to confirm Hereditary Haemochromatosis.

Your doctor may wish to send you for other tests to check for any damage caused by the raised iron levels in your body, such as:

 •          Further blood tests

•          Liver biopsy

•          CT/MRI scan

•          Ultrasound

•          ECG

Treatment in the Haemochromatosis Clinic in Tallaght Hospital

The Haemochromatosis Clinic was set up in 2010 and is a nurse led clinic, under the care of Consultant Hepatologist and Gastroenterologist Dr. Niall Breslin.

Treatment of haemochromatosis is relatively simple and very effective. It involves the regular removal of blood, known as Venesection or Phlebotomy therapy, and is much the same method as is used for blood donation.

When referred for treatment you will be contacted by a nurse to arrange an appointment for Venesection and to give you instructions on what to do prior to coming in for your appointment. You may need to attend once a week for venesection, until your iron levels return to a normal level. Blood samples will be taken regularly to monitor your progress. After your iron levels have returned to normal, you will need to have regular blood tests, usually every 3-4 months. The need for further venesection will be based on the results of your iron levels in these regular blood tests.