Sunday 26 May 2019

Real Life: Fighting the Celtic curse Haemochromatosis

Loss: Margaret Mullet lost her husband George to haemochromatosis
Loss: Margaret Mullet lost her husband George to haemochromatosis

Declan Cashin

Haemochromatosis might not be a well-known word, but this iron-related disease can lead to organ and tissue damage, and even death. And it has a particular relevance for Irish people: we have the highest rate of sufferers in the world

When we think of iron-related health problems, the first condition that instinctively comes to mind is anaemia, which is caused in part by a deficiency of the mineral. But what many of us don't realise is that a huge amount of Irish people also suffer from the opposite problem of having too much iron in the system, a condition that if left undetected and untreated can cause organ or tissue damage, and even death.

Haemochromatosis (HH) is the name given to a genetic disorder where the body absorbs too much iron from the diet. Iron is an essential mineral in our diet, used to manufacture red cells in the blood. Normally, the body can maintain a fine balance between our daily need for iron and the amount taken from the food we eat.

But for a large number of Irish people, there is a serious fault in this iron balancing system. Over the years, .... haemochromatosis sufferers accumulate too much .. iron, leading to an overload that needs to be stored in the body. This excess iron (called ferritin) is then deposited in various organs (such as the liver and pancreas), in the joints and in glands that produce hormones.

If anyone is in any doubt of the seriousness of this illness, they should speak to Dublin woman Margaret Mullett, a retired chemistry teacher who learned the all-too real and tragic consequences of untreated haemochromatosis. Nine years ago, her husband George's health started deteriorating rapidly, and just six weeks later, he died from heart failure. He was only 63.

"George had been feeling tired and his heartbeat was very irregular," recalls Margaret, who is now chairperson of the 1,300-strong Irish Haemochromatosis Association (IHA). "He'd been to a cardiologist who put him on beta-blockers, but then he started to think that they were the reason he was so tired.

"He was then diagnosed with diabetes and his sugar was sky high. After that, a doctor friend suggested he might have haemochromatosis. They did the test but the results can take a few weeks. Anyway, at that point, his heart really had given out because the iron had been stored there, so he was taken to the Mater for a transplant.

Always Fit

"He had always been a fine, fit man, and he kept working as a consultant psychiatrist right up to the day he was hospitalised. That was Easter 2000 and he died on the June Bank Holiday weekend," Margaret recalls.

When George was found to have haemochromatosis, the Mulletts' five grown-up children were immediately tested and began treatment. Haemochromatosis is a hereditary illness, meaning a mother and father must both carry a defective gene in order to pass it on to their child. In Margaret's case, she was found to be a carrier of the two genes, like her late husband, but she doesn't load iron.

"You might have the two genes, but not necessarily develop haemochromatosis," she explains. "It's a complicated condition. Our three sons and two daughters all have the genes. But they will be fine, because they got it diagnosed in time. Two of their iron levels were high at the time of testing, but it's under control now. None of them had any symptoms, and they still don't. It was a lucky save."

Indeed, that's the only thing that Margaret could cling to following the sudden death of her husband of over 30 years. "It was horrific, a desperate shock," she admits. "I miss him a lot. We got on very well, so I consider myself lucky to have had as long with him that I did.

"The thing is, he could have had a heart attack and recovered, but then never learned he had haemochromatosis. The children might never know they had it as a result. Their dad probably saved their lives."

Obscure

It's an obscure illness, but Irish people, in particular, should make the effort to educate themselves: the proportion of the population with susceptibility to iron overload is higher here than anywhere else in the world.

In wider Europe, the chances of loading are one in 400; in Ireland, it's a shocking one in 83. One in five Irish people carries the gene. Anything up to 40,000 people could have the gene and develop health problems as a result. For this reason, haemochromatosis is often referred to as the 'Celtic curse'.

The good news is that, in the vast majority of cases, haemochromatosis is easily detected, and once treated, the patient will have a normal life expectancy. Symptoms don't usually develop until a person is in their 40s or 50s, and they tend to appear later in women, as blood loss during menstruation and pregnancy can protect them. Still, it's worth remembering how easy it is to build up iron: apart from food and supplements, alcohol and even tobacco smoke all speed up the intake of iron in the body.

One of the luckier haemochromatosis patients is former senator Maurice Manning, the newly elected Chancellor of the NUI, who was diagnosed eight years ago after displaying the key symptoms of the condition (see panel).

"I was very tired and getting muscular pains," Mr Manning explains. "I thought at first it could be stress. I was diagnosed with diabetes and my doctor was very keen to see what was causing it. He discovered it was haemochromatosis, something I'd never heard of until that point.

"I had a pretty high dosage of haemochromatosis too. It took me about three years of pretty aggressive treatment, but thankfully it's totally under control. There's no comparison for how much better I feel now," he says.

Haemochromatosis is treated by venesection (or phlebotomy), which is simply drawing blood as if giving a donation. This is the safest and most effective way to reduce stored iron levels. The number of venesections required varies from patient to patient: it can be as low as two or as high as 10, and then maintenance involves three or four sessions per year for life.

At present, several hundred haemochromatosis patients are being treated by venesection in St James's Hospital, while some 2,000 people are on the books in the Mater, and that's just in Dublin. The Irish Blood Transfusion Service (IBTS) also treats haemochromatosis patients for free on Fridays in its clinic on the Old Dublin Road in Stillorgan.

Earlier this year, the IBTS also agreed a deal with Beaumont Hospital to allow the blood bus to set up at the hospital to take blood from some of the 500 people attending Beaumont's haemochromatosis clinic. However, this turned into a source of controversy when the IBTS realised that the hospital was not charging the €75 out-patient fee to non-medical card-holding patients going to the blood bus.

In short, this meant that some patients would save on the €75 fee if they fulfilled the IBTS blood-donation criteria and were treated on the bus, rather than in the hospital. The IBTS has a categorical ethical stance that no person should gain financially from giving blood.

Dr William Murphy of the IBTS says they would like to see Beaumont's €75 charge scrapped altogether to clear up any confusion, and to allow the IBTS to alleviate some of the strain on the hospital's resources.

"Beaumont is very keen for us to help them out," Dr Murphy explains. "We made the mistake about the charge, but we can't go back up there until it's removed. Some hospitals charge for venesection, like Beaumont, and others don't, like the Mater and St James's.

"There's a very reasonable case to make that people with haemochromatosis sho-uldn't have to pay anywhere, because it's a lifelong illness," Dr Murphy said.

A spokesman for Beaumont told Health & Living that the hospital has no problem with the IBTS bus working on its grounds, and says it has asked the HSE to review the charging practices. The hospital is still waiting for the report.

Dr Murphy adds that there's another great advantage in facilitating the IBTS to perform venesections: they can reuse the blood from haemochromatosis patients.

"The blood is absolutely fine," he explains. "We feel that if we had 100pc penetration of the potential for haemochromatosis in this country, then we'd get about 12-15pc of the blood supply from that source, which is not trivial."

Right now, the main aim of the Irish Haemochromatosis Association is to raise awareness. To that end, it has recruited high-profile haemochromatosis patients such as Maurice Manning, as well as All-Ireland winning Gaelic footballer for Meath, David Beggy, and author Danny Morrison. The Quality in Practice committee of the Irish College of General Practitioners is preparing an impact document and workshop on the illness that will be launched at its AGM next month.

Symptoms

In addition, the IHA lined up TV3 sports presenter Sinead Kissane (who isn't a patient) to take part in the Flora Women's Mini-Marathon last year along with several members of the Association, and Sinead has confirmed that she will be doing likewise this June to keep up the group's profile.

"A lot of people have haemochromatosis without symptoms showing," Maurice Manning says.

"There isn't really enough awareness. It's very drip-drip. We have found Mary Harney to be very supportive and positive. I think the problem comes from translating ministerial support into action and getting the HSE to do something about screening as many Irish people as possible."

For more information, contact the Irish Haemochromatosis Association on 01 8735911, www.haemochromatosis-ir.com, or email info@haemochromatosis-ir.com

Signs and Symptoms to look out for



  • Chronic fatigue -- tiredness, lethargy
  • Joint pain -- generalised aches and pains
  • Abdominal pain -- vague and non-specific
  • Sexual dysfunction -- loss of sex drive


Others signs that a GP can test for



  • Irregular heartbeat

  • Diabetes

  • Hormonal changes

  • Enlarged liver

  • Joint damage



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