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Living with hereditary haemochromatosis, Australia’s most common genetic disorder

Ashleigh smiles while holding her young daughter
Gold Coast mum Ashleigh found out she had haemochromatosis as a young adult.

Despite being Australia’s most common genetic disorder, hereditary haemochromatosis is relatively unknown. But for Queenslander Ashleigh Line, it’s something she’s been aware of since childhood – and it was all thanks to her mum’s participation in a volunteer testing program.

“My mum is a nurse and back in the 90s they were doing some early haemochromatosis testing, and she volunteered to have the test,” Ashleigh explained.

Her results showed she carried the faulty gene.

“When mum was identified as being a carrier, haemochromatosis was on her radar. She knew that when we got older, it would be worth having us tested.”

It was in her late teens that Ashleigh found out she had inherited the condition.

What is hereditary haemochromatosis?

Haemochromatosis is also known as iron overload disorder. People with haemochromatosis absorb too much iron from their diet.

Iron is an essential trace mineral, which means we need to get it via our diet but only in relatively small amounts. The body has no way of removing excess iron and for most people this isn’t an issue. The body usually fine-tunes the amount of iron we absorb from food to keep our levels within a healthy range.

For people with haemochromatosis, this isn’t the case – there’s no fine tuning, and iron levels increase over time. With nowhere else to go, excess iron is stored in the body’s joints and organs. If left untreated, haemochromatosis can lead to arthritis, liver damage, and premature death.

As it is an inherited disorder, people with hereditary haemochromatosis carry two faulty genes – one from each parent. A person with one faulty gene is a ‘carrier’ and won’t develop the condition themselves. One in seven people carry the condition, and it is equally likely in men and women.

1 in 200 Australians of northern European heritage are affected by haemochromatosis, but many wouldn’t be aware of it. That’s because it typically progresses very slowly. Symptoms tend to appear after the age of 40, but can be earlier. Early detection is key to managing the condition and reducing complications.

Early detection is vital

The early symptoms of haemochromatosis aren’t generally severe, and it was only through hindsight that Ashleigh realised she wasn’t feeling great.

“We’re very lucky that mum had been tested because otherwise, who knows whether it would have been picked up as early was it was,” Ashleigh explained.

“I didn’t recognise that the fogginess and fatigue were because of my high iron levels. It’s not anything that I imagine a lot of people would go to their GP and question, because it wasn’t that significant. It was only after I started having the treatment that I realised ‘hang on, I actually do feel a lot better’.”

When detected early, haemochromatosis is a very manageable condition.

Unfortunately, many people only discover they have haemochromatosis after they develop serious and life-threatening conditions because of untreated iron overload.

A woman sits on the edge of her bed, resting her head on her hand, looking tired.

Feeling tired or weak? Iron deficiency and iron overload share many symptoms

Early symptoms of haemochromatosis can include fatigue, abdominal pain, and joint aches. The fact that these symptoms are quite general, and tend to build slowly, adds to the lack of awareness of the disorder. What’s more, the early symptoms of too much iron and not enough iron are very similar.

“People automatically think of iron deficiency anaemia when they’re fatigued or tired, but haemochromatosis can present pretty much the same – when you’ve got too much iron, you’ll also be suffering that fatigue, that same kind of feeling,” says Ashleigh.

For people who mistake iron overload for iron deficiency and self-prescribe iron supplements, it can compound the problem. This underscores the importance of speaking with your doctor before taking any supplement. Just because they are available over-the-counter, doesn’t mean they are without risks.

One person’s treatment is another’s live saving gift

A simple blood test was all that it took to confirm Ashleigh had developed haemochromatosis. From there, it was a matter of correcting her iron levels through regular venesections, or blood removal. As Ashleigh’s iron levels returned to within the normal range, the venesections became less frequent. Now, she manages her iron levels by regularly donating blood – and saves lives in the process.

“It did feel like a bit of a challenge at first, but it didn’t take long for me to figure out that it’s quite a simple thing to manage,” Ashley reflects.

“It’s actually a really good thing from my perspective – it’s treated as a normal blood donation. It’s a nice way to feel like you’re giving back in some way.”

A man smiles while donating blood

Ask your doctor and find out if you’re storing too much iron

Some of the symptoms of haemochromatosis include:

  • Fatigue, weakness and lethargy
  • Joint pains
  • Abdominal pain
  • Decrease in body hair
  • Discolouration or bronzing of the skin

Other health conditions that can be linked with haemochromatosis include:

  • Liver disorders
  • Cardiomyopathy
  • Diabetes
  • Osteoarthritis
  • Impotence
  • Menstrual changes
  • Impaired memory, mood swings, severe irritability, or depression.

If you have any symptoms or concerns speak with your doctor. Diagnosing haemochromatosis only takes two simple blood tests – one to check your iron levels, and if they are elevated, another that tests for the faulty genes.

“If you’re feeling anything, don’t question it – just have a test,” says Ashleigh. “Having the opportunity as a young person to test for it and treat it in such a simple way, really makes it not a scary thing.”

“It’s such a manageable condition when it’s identified early.”

More information

This article discusses hereditary haemochromatosis. It does not cover juvenile haemochromatosis or non-HFE haemochromatosis, which are rare but important conditions.

Last updated: 8 May 2019