Ireland's most common genetic disorder: ‘It can creep up quietly and cause serious damage if it's missed'

Irish Times

3 days ago

Being tired is part and parcel of life, particularly, when during the teenage years, burning the candle at both ends and studying for exams. However, Alice Kelly felt 'permanently exhausted'. While she initially thought she just wasn't a very active person, when the tiredness, coupled with aches and pains, persisted right through her
Leaving Cert
year and subsequent exams – causing her to miss school and attend therapy – she decided something must be amiss.
'I started experiencing symptoms in my late teens,' she says. 'I was exhausted all the time with the kind of tiredness that you can't shake off. My fingers ached all day, but I put that down to baking and doing too much dough kneading. I also had dull, random stomach aches, mood swings that felt a bit too intense for just teenage hormones, and a constant fatigued dullness which made me feel lazy.
Alice Kelly.
'But, deep down, I knew I wasn't a lazy person – and as every blood test came back 'normal', eventually I started to believe I just needed to rest and take time off my studies. So, I pushed through my Leaving Cert, convinced I was fatigued from school and the stomach pains were just anxiety, even though I didn't feel anxious.
'Therapy didn't seem to help much either, I would try to explain that I wasn't avoiding school due to stress, I just couldn't physically bring myself to sit there and listen when my stomach hurt and I was exhausted. But, as nobody could quite understand what I was trying to describe, I started to keep it to myself.
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'But by the time I was 19, the symptoms were affecting my whole life. I had my dream job (as a baker) lined up – baking full-time, creating content and filming recipes – but even then, I couldn't summon the energy to give it my all. Everything I loved started to feel like a chore and I just couldn't explain why.'
After undergoing further tests, the now 21-year-old, who is studying Baking and Pastry Arts Management in TUD and has amassed
3.5 million followers
on social media (@fromscratchbaker), was diagnosed with
'I was recently diagnosed with a genetic disorder called hereditary
haemochromatosis
, which is sometimes referred to as iron overload or the Celtic gene because it is especially common in people of Irish descent,' Kelly says.
Alice Kelly.
'In simple terms, my body absorbs too much iron from my diet and doesn't know when to stop taking it in. This excess of iron builds up in the organs, mostly in the liver, but also the heart, pancreas and joints. Over time, the excess iron build-up can cause serious, even life-threatening organ damage.'
According to the
Irish Haemochromatosis Association
, it is a hereditary condition in which excessive amounts of iron are absorbed via the small intestines from foods such as red meat, cereals and some vegetables. The excess iron is deposited in the organs, which may become damaged as a result.
Looking back, haemochromatosis was the hidden thread connecting every one of my random symptoms – the fatigue, the stomach pains, the foggy feeling and the low motivation. But I had never even heard of the condition until I was diagnosed
—
Alice Kelly
'I have to give my parents a lot of the credit for encouraging me to go back to my GP, even when I was convinced I was a lost cause – because eventually, my serum ferritin levels were tested, and they came back alarmingly high. I was recommended to get a genetic test, and that confirmed it. I had two copies of the C282Y gene, meaning I had homozygous hereditary haemochromatosis,' Kelly says.
'I almost cried down the phone to the GP receptionist who gave me the results – I felt so much relief, after four years of thinking I was lazy or just couldn't handle the career that I loved so much. I finally had an answer – and more importantly, a treatable one.
'Looking back, haemochromatosis was the hidden thread connecting every one of my random symptoms – the fatigue, the stomach pains, the foggy feeling and the low motivation. But I had never even heard of the condition until I was diagnosed.'
Alice Kelly.
Last February, the Kildare woman was referred to a gastroenterologist and placed on a treatment plan, which has seen her quality of life hugely improve. Today, she is doing really well and would encourage anyone else who has symptoms to seek prompt advice.
'The most common treatment for haemochromatosis is venesections, which have very similar methods to blood donation,' she says. 'Every two weeks, I sit in a comfy chair with a needle in my arm and get up to 500ml of blood removed. It sounds medieval, but it works – as after just three venesections, my energy started to come back, my random stomach pains are disappearing and I finally feel a bit more normal.
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Haemochromatosis: it's known as the 'Celtic gene' for good reason
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]
'I would advise people not to ignore haemochromatosis. You may not look sick and put your symptoms down to stress or a busy lifestyle, but haemochromatosis can creep up quietly and cause serious damage if it's missed.
'It's not a condition to be scared of, just one to be aware of. The test is as simple as a blood draw and genetic screening – and for those who get diagnosed, I promise the venesection needles are not as scary as the images online.'
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`I had to give about 40 pints of blood to get my iron back down to normal levels'
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Professor John Ryan, consultant hepatologist/gastroenterologist at Beaumont Hospital, says it is important to be aware of the signs. 'If you have two copies of the haemochromatosis gene, you may be at risk of developing iron overload,' he says. 'If haemochromatosis is undiagnosed or untreated, iron overload can lead to organ damage or even premature death.
'Because early symptoms of haemochromatosis such as chronic fatigue, joint pain, abdominal pain (non-specific) and low mood can be non-specific and attributed to many other causes, haemochromatosis can be initially difficult to diagnose.
'Most people don't have any symptoms, as the iron builds up very gradually over years. But if you are experiencing any of these symptoms or you have a history of haemochromatosis in your family, go to your GP and ask for an iron panel test. If your ferritin and/or TSat levels are elevated, a genetic test is recommended to confirm a diagnosis of haemochromatosis.'
Alice Kelly.
Once diagnosed, the haemochromatosis expert says, treatment can begin. 'The primary treatment consists of the removal of blood (similar to blood donation, only more frequent) at regular intervals until iron levels return to normal,' he says.
'Once normal iron levels are re-established, they can be maintained by periodic blood removal (2-5 times per year, depending on the individual). During this maintenance phase, if eligible, blood can be donated through the
Irish Blood Transfusion Service
.'
About haemochromatosis
Hereditary haemochromatosis is the most common genetic disorder in Ireland.
One in five people are carriers and 1 in 83 are predisposed to developing haemochromatosis.
The Irish Haemochromatosis Association estimates there are at least 20,000 undiagnosed cases of haemochromatosis in Ireland.
Both women and men are equally at risk of having the condition.
Early symptoms may include:
Chronic fatigue.
Abdominal pain (non-specific).
Joint pain, especially in the knuckle and first joint of the first and second fingers.
Loss of sex drive.
Low mood.
Later symptoms may include:
Liver disease including cirrhosis and liver cancer.
Type II diabetes (adult onset).
Hypothyroidism.
Disease of the heart muscle and irregular heartbeat.