Living with haemochromatosis

Brian Keegan is from the Curragh in Kildare but he and his wife Kerry O’Sullivan and their four children now live on a small farm in Lucan.

Brian moved back to Ireland from London having sold his payroll outsourcing business some years ago. He was diagnosed with haemochromatosis in 2016 and is now a board member of the Irish Haemochromatosis Association (IHA), where he helps raise awareness about the condition.

Brian was always reasonably active, but in 2015 and 2016 was finding that his energy levels were constantly low.

“Chronic fatigue is one of the symptoms of iron overload, but I didn’t know it at the time,” he says. “At the age of 49, I was finding myself reaching for a vitamin C or energy drink in the afternoons to perk up my energy but that only gave me a boost for an hour or so. What I didn’t know, of course, was that the vitamin C drink only served to enhance the absorption of iron. It would have been very good for people with anaemia, but not for me: a person who already had too much iron in his system. With haemochromatosis, the fatigue sneaks up on you over time.”

With a few other symptoms, including heart palpitations, Brian went to his GP who decided to do the specific haemochromatosis tests. The two blood tests came back positive. The amount of iron in his blood was tested (the transferrin saturation level test) and the amount of iron stored in his body was also determined (the serum ferritin level test).

The transferrin test shows how much iron is stuck to transferrin – a protein that carries iron in your blood. About 70% of the body’s iron is in the blood. Iron is necessary for blood production, as an essential trace element that helps the body make healthy red blood cells – which then carry oxygen throughout your bloodstream.

‘Haemo what?’

Brian had never heard of haemochromatosis. “I said, ‘haemo what?’” he tells Irish Country Living.

As it is a hereditary condition, all Brian’s family were subsequently tested.

“It turns out my mother carried the gene, but my mother’s gene wasn’t active so it had to have been my dad who had the active gene (for it to be passed down),” he explains. “Both parents have to carry the faulty HFE gene for a person to get haemochromatosis. My father died young of leukaemia, but he used to suffer from fatigue and we think that haemochromatosis probably contributed to his early demise in 1986.”

Only one other sibling, one of Brian’s sisters, has it as well as himself.

But how did Brian feel when he got the diagnosis?

“I was relieved that it wasn’t anything more sinister and that it was treatable,” he says. “Treatment involves regularly removing blood until iron levels normalise. My GP told me that I’d need to have blood taken off (phlebotomy) very regularly. My iron levels were 1,200 when I was diagnosed but 50-150 is the normal level. So the first year was fairly intense on the taking-off blood front – especially as I had a fear of needles. I had donated blood sometimes in the past before I went to London, though, so maybe that helped regulate the haemochromatosis.”

Treatment for Brian involved attending hospital for blood letting every week for six months, then monthly for six months, and then quarterly. He now attends twice a year.

“Luckily, haemochromatosis is an easy thing to manage and regulate,” he says. “I see my consultant once a year who monitors how I’m doing and plans for the year ahead. You can have the bloodletting done at your GP, also.”

He finds that his energy levels rise after blood has been taken off.

“You actually get a great rush of energy when your body is recreating that blood that’s gone.”

‘Rusts’ your organs

Approximately 35,000 people in Ireland are walking around with haemochromatosis, Brian says, totally oblivious to the fact that they have it, and iron is building up in their pancreas, heart and liver.

“A great description is that it ‘rusts’ those organs,” he says.

“The longer it’s left, the more it will rust them and, eventually, it kills you. It is fatal if not attended to, so it’s not for putting on the long finger. If you have several of the symptoms, ask your GP to do the haemochromatosis tests. Awareness among GPs varies a bit, but if you feel that your symptoms are similar, there’s no harm in asking for the test in order to eliminate it as a possibility, given the prevalence of the condition in Ireland.”

Awareness

While awareness of the condition has improved, Brian believes that there is a long way to go.

“Raising awareness is the whole reason for the existence of the IHA,” he says. “None of my siblings had heard of it before, either. Due to having a stand at the National Ploughing Championships, awareness in the farming community of the condition is relatively high – particularly in the older age group – but younger farmers need to be aware of it too. It’s an ongoing job, getting the message out about haemochromatosis to each new generation.”

Advice for farmers

What advice does Brian have for Irish farmers?

“Farmers are busy people; looking after land, livestock and family and they generally put themselves last on the list,” he says.

“They tend to ignore their own symptoms and not take action on them but haemochromatosis is such a simple thing to take action on, if they could just peel themselves away from their busy lifestyle and go to their GP.

“If they have it and are treated, before they know it they have their energy back and the joint pain will stop. Phlebotomy is a relatively quick fix, you start seeing the benefits straight away.”

Famine led to

increase in incidence

Why do so many Irish people have haemochromatosis?

We have to go back to the Great Famine of 1846 for that.

“One in five carry the gene, and one in 80 have the full-blown condition, compared to other countries where it is non-existent,” Brian says.

“In famine years, people with haemochromatosis survived and outlived those who didn’t have it. This had the effect of distilling the population of those with high iron even further. There are pockets of it along the east coast of the US and in Canada, too, because so many Irish emigrated there and brought haemochromatosis with them.”

How it’s inherited

Everyone receives two sets of genes: one from their father and one from their mother. You’re only at risk of haemochromatosis if you inherit the faulty HFE gene from both of your parents.

If you only inherit the faulty gene from one parent, you’ll be at risk of passing it on to your children – known as being a “carrier” – but you will not develop haemochromatosis yourself.

Dr John Ryan, Consultant in Hepatology and Gastroenterology at Beaumont Hospital, comments, “Ireland has the highest rates of haemochromatosis in the world. Haemochromatosis is an inherited condition, where the body cannot switch off iron absorption and iron build-up leads to life-threatening organ damage. If picked up early enough, it is entirely treatable, and individuals may also donate blood through the Irish Blood Transfusion clinics, which is then put to good use.”

The public can support the work of the IHA and its helpline, by donating via the Text to Donate service – text IRON to 50300 or by making a donation on the charity’s website: www.haemochromatosis-ir.com

The IHA has been working hard to increase awareness including holding the inaugural IRON GAMES in Croke Park in 2019 where teams were made up of people with haemochromatosis or those related to them.

“It was a massive success,” Brian says, “and we raised €80,000 that day.”

The IHA also lit up many civic buildings around Ireland in red on 1 June this year – World Haemochromatosis Day – to draw attention to the condition. CL

Symptoms

Iron builds up slowly, so symptoms may not appear until the age of 30 or 40. These symptoms include:

Most individuals with haemochromatosis will develop at least one or two of the above symptoms, although possibly in a mild form.

Most cases of haemochromatosis are linked to a fault in a gene called HFE which affects one’s ability to absorb iron from food.

† Most of these symptoms can be found in other disorders, but when arthritis affects the first two finger joints, it is highly suggestive of haemochromatosis.

50:50

Men and women are equally likely to have the condition, although the perception may be that more men than women have it. A woman’s menstrual cycle helps to self-regulate, so women are often only diagnosed later in life.

Read more

Living with endometriosis

Being glaucoma aware