What Is Haemochromatosis: Symptoms And Diagnosis of The ‘Celtic Curse’?

It is the most common genetic disorder in the UK – but if you haven’t heard of haemochromatosis you’re not alone. The condition affects an estimated 250,000 people of European ancestry in the Britain and, although symptoms can start from the age of 30, they progress as we get older.

That means they can often be mistaken for signs of old age. 

Haemochromatosis, sometimes dubbed the “Celtic curse”, was previously considered a fairly low-risk disease but now two major studies have suggested it could have serious health implications – and even prove fatal. 

The studies, led by the universities of Exeter and Connecticut, suggest that the disorder quadruples the risk of liver disease, and doubles the risk of arthritis and frailty in older age groups. It also causes higher risk of diabetes and chronic pain and increases risk of death from liver cancer. 

Scientists have called for routine screenings of haemochromatosis – but until then, here’s what you need to know about the condition.

What Is Haemochromatosis?

Haemochromatosis is a genetic disorder which causes people to absorb too much iron from their diet. This accumulates around the body over time and can damage organs, eventually causing disease.

The disease is caused when people have two particular faulty genes, passed down from their parents. It’s sometimes dubbed the “Celtic curse” but the condition is common throughout northern Europe, and also occurs at a lower level in southern Europe and is common in Australia and the US. 

The condition is twice as likely to be serious in men; women have partial protection until later in life because they lose iron through menstruation and having children.

What are the symptoms? 

Primary symptoms of haemochromatosis include feeling tired all the time, muscle weakness, joint pain and erectile dysfunction in men. 

If it isn’t treated early on, other problems can develop. According to the NHS, these include:  

  • loss of sex drive

  • darkening of the skin – you may look permanently tanned

  • tummy pain and swelling

  • yellowing of the skin and eyes (jaundice) 

  • feeling thirsty all the time and needing to pee frequently

  • severe pain and stiffness in your joints, particularly in the fingers

  • chest pain

  • shortness of breath

  • swelling of your hands and feet

  • an irregular heartbeat (arrhythmia)

  • in men, the testicles getting smaller

What treatment is available? 

Haemochromatosis can usually be diagnosed with a blood test, so you should talk to your GP about testing if you think you may be experiencing symptoms. You may also need a liver biopsy before receiving a diagnosis. 

There is currently no cure for haemochromatosis, but treatments are available to reduce the amount of iron in your body and limit symptoms. 

These include: 

  • Diet alternations, such as limiting your alcohol intake. 

  • Phlebotomy, which involves removing some of your blood (like giving blood), which stimulates the body to use up iron to replace red blood cells. 

  • Taking medication, which prompts the body to remove excess iron through urine and poo. 

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