Haemochromatosis: You might have blood disorder – most common genetic condition in the West

The UK and Ireland are a hotspot for the condition haemochromatosis – so much so that it’s also known as the ‘Celtic curse’.

Here’s what you need to know about the disorder.

What is it?

People with haemochromatosis carry a gene mutation that causes them to absorb twice as much iron from what they eat as those who don’t have the condition.

‘The body doesn’t have a way of getting rid of iron overload, so if you have too much, it gets deposited in the organs, particularly the liver.’

‘At higher levels, it can also enter the heart, pancreas and other organs,’ explains Dr Sara Trompeter, Consultant Haematologist at University College London Hospitals.

‘It takes a long time for the iron to build up, so symptoms are usually first apparent between the ages of 30 and 60.’

‘It can take longer for symptoms to be seen in women, as they have periods and are therefore losing iron each month naturally.’

One symptom of the condition is abdominal pain
(Image: Getty Images/Science Photo Library RF)

How common is it?

In the UK, 250,000 have been diagnosed, but specialists believe there are hundreds of thousands more who remain undiagnosed.

‘There are 10 times as many people with the genetic mutation than we thought, but only 12% of people with it are being diagnosed, and lots of those go on to develop associated diseases,’ says Professor David Melzer, an expert in the condition, who headed up a recent large-scale research project into it.

‘Haemochromatosis is tricky to say, easy to diagnose, simple to treat and tragic to ignore.’

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The impact of iron overload

An excess of iron can cause a whole host of problems.

Haemochromatosis sufferers are four times more likely to develop liver disease and twice as likely to suffer from arthritis.

‘In the UK, 1.6% of all hip replacements stem from the condition,’ says Professor Melzer.

‘Arthritis doesn’t reverse when your iron levels are reduced, though bringing those levels down will stop further damage.’

‘That’s why early diagnosis is crucial.’

A build-up of iron in the pancreas can cause diabetes, while excess iron in the heart can cause cardiomyopathy and eventual heart failure.

The liver is very sensitive to iron, so many sufferers will have some damage or scarring (cirrhosis), and 6% of all liver cancers in men can be attributed to haemochromatosis.

‘But liver disease is associated with a combination of other risk factors, rather than haemochromatosis alone,’ says Professor Melzer.

‘It normally comes along with something else: heavy drinking, obesity or hepatitis.’

When there is too much iron in your system, it deposits it in the liver, causing an overload
(Image: Getty Images/iStockphoto)

FACT

In some areas of the UK, as many as 1 in 8 people carry the gene defect that causes the condition

How to get tested

‘Diagnosis of haemochromatosis is often delayed or missed,’ says Dr Luke Pilling, of the University of Exeter Medical School.

‘That’s not surprising, because symptoms such as joint pains and tiredness are frequently mistaken as signs of ageing.’

‘These potentially deadly health risks could be treated and avoided, however, transforming people’s lives, especially in older age.’

On average, haemochromatosis sufferers are misdiagnosed 67% of the time* and will consult three doctors before being successfully diagnosed.

Yet diagnosis is very simple: ask your GP for a blood test to check your levels of ferritin – an indicator of how much iron is stored in your body.

If your levels are high, a DNA test will confirm whether or not you have the condition.

Among other gene defects, some health and ancestry tests now check for haemochromatosis.

You could try 23andMe’s DNA test, from £79 at 23andme.com, to find out if you’re at risk.

By removing a pint of blood from the body, it reduces the amount of iron, so the sufferer feels better
(Image: Getty Images/iStockphoto)

Treatment

Treating haemochromatosis is simple and very similar to blood donation.

A process called a venesection removes a pint of blood at a time, taking with it 200mg of iron and forcing the body to draw on iron stored deep in the organs to make new blood cells.

Once iron levels are reduced, many sufferers need venesections only every couple of months and can even donate their blood.