When Dr Paul Grant, an experienced family doctor in Buncrana, Co Donegal, casually asked one of his fellow GPs in the practice to "take his bloods," he automatically presumed he would get a clean bill of health.
So, it came as a shock to the then healthy 45-year-old that his iron levels were high. Further investigation revealed he had haemochromatosis, an inherited condition where the body absorbs and stores too much iron and which, if untreated, can potentially cause major organ damage. Ireland, particularly the north-west of the country, has the highest incidence of this disorder, nicknamed the "Celtic Curse", in the world. It affects both men and women equally.
"As a GP practising in Donegal 25 years ago, I can remember there was a fairly low level of knowledge about this condition, and it was not routinely tested for," he said. "It, therefore, came as a bit of a surprise for me when my own blood results came back showing that I had it. I was not aware of any family history of this condition (it is passed from parent to child by a faulty or mutated gene ) nor was I complaining of any major symptoms. I remember I had some mild fatigue, but was putting this down to normal fatigue associated with work/family, etc.
"I have to admit I first had to go back to the text books to read up about the condition, and then had to get on a treatment programme. I'm glad to say, I have learned a lot about the diagnosis and management of this condition since then and I managed to avoid many of the complications."
One in five people carry this defective gene which means s/he has one copy of it, explained Dr Grant, who is a medical adviser to the Irish Haemochromatosis Association of Ireland and who was speaking about the subject at the Galway City Library recently as part of the "Healthy Ireland at Your Library" programme. One in 83 people carries two copies of the gene, meaning they can go on to develop iron overload, he added.
It is believed that this faulty gene may have been brought to Ireland by the Vikings, he said. "The gene has been identified in neolithic remains found in north Antrim. While haemochromatosis is a problem for modern first world populations, it is thought that it may have conferred some benefit to the Vikings, allowing them to maintain good iron levels on a more limited diet that might have existed in their time."
He described iron as an essential element in our metabolism. Too little iron in our diet can lead to anaemia while, too much, can cause organ damage and potentially serious medical difficulties.
Serious complications
"In patients with haemochromatosis, iron is absorbed from the gut continuously, even when iron levels in the body are normal. This eventually leads to iron overload. The excess iron is then deposited in various organs around the body, especially the liver, pancreas, heart, and joints. Here, over time, the excess iron causes damage to the organs leading to the common and often serious complications associated with haemochromatosis.
"As iron overload develops gradually, so, too, do the symptoms associated with the condition. These are often vague and non specific and can result in a delay in diagnosing it."
Common symptoms are fatigue, abdominal and joint pain, palpitations, low libido, and diabetes. These symptoms are not specific to haemochromatosis and are often ignored, leading to delayed diagnosis. This is a major problem and often leads to ongoing tissue damage and more serious complications.
Dr Grant, who lived in Galway from 1976 to 1985 ("nine brilliant years", he said ) while completing degrees in biochemistry and medicine, said as iron levels gradually increase with time, organ damage worsens.
"In particular, iron is deposited in the liver, leading to inflammation and scarring with potential cirrhosis. Also, patients with haemochromatosis who develop cirrhosis have an increased tendency to develop a specific liver cancer, called hepatoma. The pancreas is another organ often affected leading to diabetes. Also, cardiac complications can arise leading to cardiac arrhythmia and heart failure. Joints can also be affected leading to joint pain and arthritis."
Early diagnosis and treatment for this common condition are the key to reducing complications, he said. "For early diagnosis to be achieved, there needs to be an awareness about the condition and easy access to the necessary tests to diagnose it. In Ireland today, thankfully, there is a good and developing awareness that this condition exists, and how to get tested for it. This is largely due to the excellent public awareness programme carried out by the Irish Haemochromatosis Association for the past 25 years."
He reassured people there is no need to worry if they are diagnosed with the condition. "The biggest problem is not knowing you have it! Once the diagnosis is made, treatment is relatively simple and further organ damage can be avoided. Personally, as a retired GP diagnosed with the condition 25 years ago, I can safely say there is nothing to fear about living with the condition. I was lucky to discover I had it before any major complications developed.
Genetic testing
"Diagnosis of this condition is easy. If you have any concerns regarding possible haemochromatosis, you should contact your GP to discuss it. He/she will then arrange a simple blood test to check iron levels. If these suggest haemochromatosis, a further blood test for genetic testing will be required."
The treatment for the condition involves removing some blood, a procedure known as venesection. "This is similar to donating blood. Your GP will arrange for you to visit the surgery regularly until your iron levels return to normal. In my experience, patients are generally very good about coming for venesection. Many of my patients would tell me that they felt better very soon after it. Some would even contact me and tell me 'I need my blood off' letting me know they were feeling tired and felt they needed further venesection.
"Treating this condition was very gratifying for me. I used to enjoy the time spent with the patient. It allowed us to discuss other issues and I enjoyed the feeling that this simple procedure was benefiting this patient and avoiding the serious complications of this condition."
How important is diet for people with haemochromatosis? Dr Grant recommended that they avoid foods with added iron or iron supplements. "Also, Vitamin C supplements should be avoided as this can increase iron absorption from the gut. Alcohol also increases iron absorption, so should be taken only in moderation. If there is liver damage, alcohol should be avoided altogether."
Since 2019, the Irish Blood Transfussion Board accepts blood donations from haemochromatosis patients whose iron levels have returned to normal. "This is an excellent way of managing the condition as the donated blood can be used to help others."
• For further information on haemochromatosis, contact the Irish Haemochromatosis Association which provides information, support, and resources for people with the condition. Telephone its helpline at (01 ) 8735911 or email [email protected]
