What is haemochromatosis - and what are the symptoms?

Haemochromatosis is a disorder that many people might not have heard of, but it is actually one of the most common inherited conditions in the UK.

The genetic disorder  is caused by a build-up of iron in the body which can lead to damage in many parts of the body
The genetic disorder is caused by a build-up of iron in the body which can lead to damage in many parts of the body

The condition can lead to damage in many parts of the body, including the liver, joints and heart. Here are the signs and symptoms to watch out for.

What is haemochromatosis?

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The genetic disorder is caused by a faulty or abnormal gene which is responsible for an increase in the amount of iron entering the body, causing people to absorb at least twice as much as normal.

The genetic disorder is caused by a build-up of iron in the body which can lead to damage in many parts of the body

Who is at risk?

You are at risk of developing the condition if both of your parents have this faulty gene and you inherit one copy from each of them. However, even if this occurs, it does not necessarily mean you will develop haemochromatosis.

The condition typically affects people of white northern European background, and is particularly common in countries where lots of people have a Celtic background, such as Ireland, Scotland and Wales, says the NHS.

The extra iron in the body causes damage to cells, tissues and organs by increasing the production of harmful oxygen molecules, which can be toxic when there are too many.

Initial symptoms can include joint pain, weakness, weight loss and feeling tired

In the UK, affects an estimated one in 200 people, but only around one person in 5,000 is ever diagnosed, according to the British Liver Trust.

What are the symptoms?

Symptoms of haemochromatosis normally begin between the ages of 30 and 60, although in some cases they can occasionally occur earlier.

Women typically develop the symptoms earlier than men, but will not usually happen until after the menopause.

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In some cases, there are no obvious symptoms and the condition is only detected following a blood test.

According to the NHS, initial symptoms can include:

- feeling tired all the time

- weight loss

- weakness

- joint pain

- in men, an inability to get or maintain an erection

- in women, irregular periods or absent periods

However, these symptoms can be attributed to other causes and may sometimes be put down to getting older.

As the condition progresses, it can also lead to problems which include:

- loss of sex drive

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- darkening of the skin

- abdominal pain and swelling

- yellowing of the skin and eyes

- feeling thirsty all the time and needing to urinate frequently

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

- chest pain

- shortness of breath

- swelling of your hands and feet

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- an irregular heartbeat

- in men, the testicles getting smaller

These problems are often caused by complications of haemochromatosis that can occur if the condition isn't treated early on.

When should you see a doctor?

It is recommended you see your GP if you experience persistent or concerning symptoms which could be caused by haemochromatosis, particularly if you have a northern European family background.

It is also advised you visit your GP if you have a parent or sibling with haemochromatosis, even if you do not have any symptoms yourself.

Blood tests can be carried out to check if you might be at risk of developing problems.

How is it treated?

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While there is currently no cure for haemochromatosis, there are treatments which can reduce the amount of iron in the body, thereby reducing the risk of damage to tissues and organs.

The two main treatments are:

- phlebotomy – a procedure to remove some of your blood. This may need to be done every week initially, but can be done every few months once your iron level comes down to normal

- chelation therapy – where you take medication to reduce the amount of iron in your body. This is only used if it's not easy to regularly remove some of your blood

If you are having treatment to control your iron levels, you will normally be advised to avoid eating breakfast cereals containing added iron, vitamin C or iron supplements, and drinking too much alcohol.