The Western world’s most common genetic disorder causes far higher levels of serious disease and disability than previously thought, despite being easy to detect and treat, research has shown.
The iron overload condition haemochromatosis, previously thought to be a low-level health risk, actually quadruples the risk of liver disease and doubles the risk of arthritis and frailty in older age groups, two major studies have revealed.
Exeter University said the condition could affect up to 20 times more people than earlier figures suggested.
- What is haemochromatosis?
It is the most common genetic disorder in the UK.
An estimated 250,000 people of European ancestry in the country have the disease, which is caused when people have two particular faulty genes.
Haemochromatosis causes people to absorb too much iron from their diet, which accumulates around the body over time, damaging organs and eventually causing disease.
It also causes higher risk of diabetes and chronic pain.
- What are the signs and symptoms?
Symptoms can include feeling tired all the time, muscle weakness and joint pain, meaning it is often misdiagnosed as the signs of ageing, according to the NHS.
- Feeling very tired all the time
- muscle weakness
- joint pain
- weight loss
- in men, an inability to get or maintain an erection (erectile dysfunction)
- in women, irregular periods or absent periods
- How many people are affected by haemochromatosis?
One in eight people in some areas of the UK are carriers, meaning they have one of the two faulty genes.
If both parents are carriers then two faulty genes can be passed on to their children.
In Ireland, it is known as the "Celtic curse", although it 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, and women have partial protection until later in life because they lose iron through menstruation and having children.
Long-distance runner Ruth Jones knew the aches and pains she was experiencing went beyond the signs of natural ageing, yet it took nine months of tests before she was finally diagnosed with haemochromatosis.
The mother-of-two from Stamford, Lincolnshire runs up to 70 miles a week and was seeking an explanation for her plummeting energy levels and slower speeds.
"I was feeling exhausted all the time. I was finding running much harder, for no obvious reason. It went well beyond what other runners experience as part of getting older," she said.
- Is there any treatment 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.
Treatment initially involves the regular removal of blood, known as a venesection, and this is usually carried out every few weeks.
The treatment is aimed at removing iron from your body. As the body has no natural method for getting rid of the extra iron, this done by regular bleeding known as phlebotomy, according to the British Liver Trust.
During phlebotomy a unit of blood, usually 450 millitres (ml), is removed. This amount will contain 220mg of iron.
Bleeding in this way will activate the remaining stored iron to make new red blood cells.
- What have researchers said?
Dr Luke Pilling, a member of a research team led by universities of Exeter and Connecticut, said: "We found that diagnosis of haemochromatosis is often delayed or missed.
"That’s not surprising as symptoms such as joint pains and tiredness are frequently mistaken as signs of ageing.
"Yet it is likely that these potentially deadly health risks could be treated and avoided, transforming lives, especially at older ages."