Why is Australia’s most common genetic disorder so hard to pick up?

‘I’m a male who tends not to go to the doctor and doesn’t complain. So it’s partly my fault. But I didn’t realise it was a problem at the time.’
 
Twenty-five years ago, Queenslander Tony Moorhead started feeling unusually tired. He felt more and more fatigued over the next couple of years.
 
‘It started off and I didn’t think anything about it. But after three years, it became quite serious,’ he told newsGP.
 
‘I started thinking, I can’t be bothered going into work. I’d hang out a load of washing and have to sit down for a rest.
 
‘People around me noticed it more than me. One day, I thought I have to go home from work or I’d fall asleep at my desk.’
 
Mr Moorhead’s then-partner convinced him to see a GP. His bloods came back with odd readings, and he was referred to a gastroenterologist, who diagnosed him with Australia’s most common genetic disorder – haemochromatosis.
 
The iron levels in Mr Moorhead’s blood had hit 1500 – five times as high as the upper limit of the normal range.
 
People normally store around 1 gm of iron, but haemochromatosis can see up to 30 gm stored in vital organs, which can be severely affected.
 
The iron overload disorder occurs in around one in 200 people of northern European descent.
 
‘It’s insidious, a slow progression,’ Mr Moorhead said. ‘I’d never heard of it, and I didn’t know anyone who had heard of it.
 
‘It was pretty scary; I didn’t really understand what was happening at the time.’
 
As he began a series of venesections – donating blood twice a week – Mr Moorhead found his energy began to return. He felt almost normal after three months.
 
Mr Moorhead’s gastroenterologist told him he was lucky. Haemochromatosis can cause serious organ damage, and Mr Moorhead’s liver was showing early signs of cirrhosis. But his liver recovered once his iron levels came back down to normal.
 
Treatment for the disorder is simple – donate blood to keep the iron levels down.
 
‘Now I just donate blood every three months. [The Red Cross] can use the blood, so it’s a win–win,’ Mr Moorhead said. ‘I’ve now made 125 donations. It’s very simple to treat.’
 
Despite how common it is, Mr Moorhead – who is the national secretary of Haemochromatosis Australia – said the disorder is still difficult to pick up.
 
‘The first line of defence is to screen family members if someone is detected. That’s often the easiest way to diagnose it,’ he said.
 
Clarity at last
Karin Calford’s diagnosis came as a welcome relief.
 
The physically active woman had been experiencing increasing exhaustion for years. Her weekly tennis sessions went from a joy to a challenge, leaving her feeling very unwell. She would often sleep for hours after playing.
 
Mowing the lawn became more and more difficult. She soon found herself being unable to climb the stairs to her children’s bedrooms, instead leaving their clean clothes at the bottom.
 
Sleep was wretched, broken by pain from her aching wrists. Soon her elbows and hips began aching. She began gaining weight.
 
Ms Calford’s part-time job had also become much harder due to her exhaustion. She felt forgetful and foggy.
 
But due to the broad nature of the symptoms, Ms Calford was not diagnosed for at least 18 months. Her doctor suggested it might be depression or menopause.
 
‘I felt physically awful in a way that I still struggle to explain, and even emotionally tired. But I just knew there was something wrong, something which had another solution,’ she told newsGP.
 
‘In the past I had suggested to others that seeking a second opinion can be worthwhile, yet I didn’t do this. I probably should have, not because he was not a good GP – he was and is a very good GP – but simply because we weren’t making any progress towards resolving my problems.’
 
Ms Calford’s GP eventually sent her to an endocrinologist, who diagnosed haemochromatosis. She was elated.
 
At last she had found the root cause. And even better, the treatment was giving blood.
 
But there were still more hurdles to jump. Giving blood made her heart race uncontrollably, leading to great distress.
 
It was only when Ms Calford began taking medication to manage that sensation that she began feeling like her life was back under her control.
 
‘My condition is now under control and well managed, and my overall health is better than it has been for some years,’ she said.
 
One of the issues with the diagnosis is that women are less susceptible to iron build up, due to regular blood loss from menstrual cycles.
 
That can lead to a delayed diagnosis.
 
Ms Calford said having her diagnosis doubted had a ‘tremendous impact’ on her.
 
‘My self-confidence eroded over time; how was it that I could not convey to the GP just how truly physically awful I was feeling?’ she said.
 
Ms Calford has since moved home twice, forcing her to find a new GP each time to monitor and refer.
 
She believes there is a shortage of information about what is a surprisingly common condition, and became involved with patient body Haemochromatosis Australia to boost awareness.
 
‘There seems to be a lack of resources and good information on haemochromatosis in both the primary health sector and in the general community, and doctors and their patients can struggle because of this,’ she said.
 
One of the positives from Ms Calford’s journey has been the fact two her children have been tested and found to have the predisposition for the condition. That meant they could begin venesections regularly in order to ward off any iron build-up.
 
There has been progress in recent years, with the High Ferritin App improving the process for therapeutic donors being referred to the Australian Red Cross and reducing the number of unnecessary venesections.
 
But Ms Calford feels most discussion regarding iron and health still focus on iron deficiencies, with overload often overlooked.
 
‘Given the general and non-specific nature of the symptoms, hereditary haemochromatosis is hard to diagnose and easy to misdiagnose,’ she said. ‘Members of the general community were largely unaware of inherited iron overload as a condition.
 
‘With a slow and insidious onset, hereditary haemochromatosis often remained undetected until significant health problems presented. Those who discovered they have cirrhosis [due to the condition] tend to be extremely frustrated to have this discovered by what they understood to be a few simple blood tests.’   
 
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