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HEALTH High rate of hereditary haemochromatosis in the west

Nurturing

Hereditary haemochromatosis can cause a toxic accumulation of iron in the body.
PUMPING IRON?Hereditary haemochromatosis can cause a toxic accumulation of iron in the body.

High rate of hereditary haemochromatosis in the west


Even an iron man can have too much metal

Doctor's Insight
Dr Ronan Clancy

As one of the recent Sea2Summit participants, I have to say, although tough, I enjoyed and suffered it in equal measure. Whilst hobbling on up in the rain and mud towards the sheep gate, I could only admire some of the elite men and women already well into their return trip from the holy summit.
Iron in stature and iron in determination best describes their physical enigma, packing enough metal to set off an airport detector! Warriors like these just can’t have enough metal. However, in the medical sense, sometimes you can. In this first column I’m going to discuss a medical condition called ‘hereditary haemochromatosis’ which is all about metal, namely iron, and one which holds particular relevance for the population of western Ireland.
Haemochromatosis is an inherited genetic disorder whereby the body is predisposed to absorbing, carrying and laying down too much iron in the organs. It is particularly prevalent in the Celtic races of northern Europe (three to five cases per 1,000 people) and especially prevalent in Ireland, particularly the west of Ireland (ten to eleven cases per 1,000 people )
Iron is an essential element for life. Its major function is to collect oxygen at the lungs in the air we breathe, and ferry it on a substance known as haemoglobin to the tissues of the body. The oxygen is released in the tissues and used to drive cells and maintain life in the complex process of respiration. Without iron there really wouldn’t be much life, in fact a committed Sea2Summit athlete without iron would only get about 50 yards up Distillery Road before calling it a day!
In haemochromatosis, the opposite scenario occurs and iron levels become elevated in the body over time. Symptoms of iron overload generally don’t occur until sometime between 30 and 40 years of age. When symptoms do develop, they are usually mild and may be quite vague and masquerade as many other things. They include tiredness and fatigue, joint pain, loss of libido, menstrual irregularity, infertility and increased skin pigmentation.
If iron is allowed accumulate to higher levels in the organs, most commonly, the liver, pancreas and heart, the serious problems manifest. At such levels, iron has a toxic and poisonous effect, causing malfunction and in severe cases, organ failure. Serious disease can develop, including, cirrhosis and cancer of the liver, heart failure and diabetes. Thankfully, with modern preventative medicine, these are now exceptionally rare consequences.
Basic screening for haemochromatosis involves a blood test done by your GP. It measures ferritin (a substance that reflects how much iron is present in the body) and transferrin saturation (a reading that measures how active the transfer and lay down of iron in the tissues and organs is). If these tests indicate possible iron overload, a genetic test is then ordered. Depending on results, regular monitoring may be all that is required. In other instances, treatment and family genetic screening may be necessary. In certain cases, a sample of tissue (a biopsy) may be taken from the liver to assess for toxic damage and its extent.
Iron stores in the body can be brought down to safe levels simply by removing controlled amounts of blood in a process called venesection. When blood is removed, new blood is produced to replace it, which draws on and reduces the amount of stored iron. With regular treatments, safe iron levels can be achieved and maintained. Symptom control will follow, and the long-term threat to the vital organs can be fully avoided.
Safe iron levels are set out by international clinical guidelines, while regular monitoring of ferritin will decide the frequency of venesection. Lifestyle modifications include the avoidance of iron-rich foods and moderate alcohol intake. The process of screening and treatment is simple, cheap, convenient, minimally invasive and easily available at primary care level. You should discuss with your GP.
As for me, I’ll be hoping my iron levels increase a bit in time for next year’s race!

The Irish Haemochromatosis Association (www.haemochromatosis-ir.com) is an excellent source of information and support for people who suffer or may be concerned about Haemochromatosis.

Dr Ronan Clancy is a GP at the newly opened Clancy Medical Practice, James street, Westport. He is in practice with Sarah Kavanagh, chartered physiotherapist. Contact Clancy Medical Practice on 098 24606 or www.westportgp.ie.

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