Overview

Haemochromatosis is an inherited condition in which iron levels in the body slowly build up over many years.

This build-up of iron, known as iron overload, can cause unpleasant symptoms. If it is not treated, this can damage parts of the body such as the liver, joints, pancreas and heart.

Haemochromatosis most often affects people of white northern European background and is particularly common in countries where lots of people have a Celtic background, such as Wales, Scotland and Ireland.

Symptoms of haemochromatosis

Symptoms of haemochromatosis usually start between the ages of 30 and 60.

Common symptoms include:

• feeling very tired all the time (fatigue)
• weight loss
• weakness
• joint pain
• an inability to get or maintain an erection (erectile dysfunction)
• irregular periods or absent periods

When to see a GP

See a GP if you have:

• persistent or worrying symptoms that could be caused by haemochromatosis – particularly if you have a northern European family background
• a parent or sibling with haemochromatosis, even if you don't have symptoms yourself – tests can be done to check if you're at risk of developing problems

Talk to your GP about whether you should have blood tests to check for haemochromatosis.

Treatments for haemochromatosis

There's currently no cure for haemochromatosis, but there are treatments that can reduce the amount of iron in the body and reduce the risk of damage.

There are 2 main treatments.

• phlebotomy – a procedure to remove some of your blood; this may need to be done every week at first and can continue to be needed 2 to 4 times a year for the rest of your life
• chelation therapy – where you take medicine 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

You do not need to make any big changes to your diet to control your iron levels if you're having treatment, but you'll usually be advised to avoid:

• breakfast cereals containing added iron
• iron or vitamin C supplements
• drinking too much alcohol.

Causes of haemochromatosis

Haemochromatosis is caused by a faulty gene that affects how the body absorbs iron from your diet.

You're at risk of developing the condition if both of your parents have this faulty gene and you inherit 1 copy from each of them.

You will not get haemochromatosis if you only inherit 1 copy of the faulty gene but there's a chance you could pass the faulty gene on to any children you have.

And even if you do inherit 2 copies, you will not necessarily get haemochromatosis. Only a small number of people with 2 copies of this faulty gene will ever develop the condition. It's not known exactly why this is.

Complications of haemochromatosis

If the condition is diagnosed and treated early on, haemochromatosis does not affect life expectancy and is unlikely to result in serious problems.

But if it's not found until it's more advanced, the high iron levels can damage parts of the body.

This can lead to potentially serious complications, such as:

• liver problems – including scarring of the liver (cirrhosis) or liver cancer
• diabetes – where the level of sugar in the blood becomes too high
• arthritis – pain and swelling in the joints
• heart failure – where the heart is unable to pump blood around the body properly

Symptoms

Symptoms of haemochromatosis usually begin between the ages of 30 and 60, although they can occur earlier.

The symptoms tend to develop earlier in men than in women. Women often don't experience problems until after the menopause.

Sometimes there are no symptoms and the condition is only found during a blood test.

Early symptoms

Initial symptoms of haemochromatosis can include:

• feeling very tired all the time (fatigue)
• weight loss
• weakness
• joint pain
• an inability to get or maintain an erection (erectile dysfunction)
• irregular periods or absent periods

These symptoms can have many different causes and may sometimes just be put down to getting older.

Later problems

As the condition progresses, it can also cause problems such as:

• loss of sex drive (libido)
• darkening of the skin – you may look permanently tanned
• tummy (abdominal) 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)
• the testicles getting smaller

These problems are often caused by complications of haemochromatosis that can occur if the condition is not treated early on.

When to see a GP

See a GP if you have:

• persistent or worrying symptoms that could be caused by haemochromatosis – particularly if you have a northern European family background, as the condition is most common in this group
• a parent or sibling with haemochromatosis, even if you do not have symptoms yourself – tests can be done to check if you're at risk of developing problems

Talk to the GP about whether you should have blood tests to check for haemochromatosis.

Who can get it

Haemochromatosis is caused by a genetic fault that can be passed on to a child by their parents.

Most cases are linked to a fault in a gene called HFE, which affects your ability to absorb iron from food.

Normally, your body maintains a steady level of iron. The amount of iron absorbed from food varies according to your body's need for it.

But people with haemochromatosis cannot control their iron level. The level gradually increases over time and iron starts to build up in their organs, damaging them in the process.

How haemochromatosis is inherited

Everyone receives 2 sets of genes – 1 from their father and 1 from their mother. You're only at risk of haemochromatosis if you inherit the faulty HFE gene from both of your parents.

If you only inherit the faulty gene from 1 parent, you'll be at risk of passing it on to your children – known as being a "carrier" – but you will not develop haemochromatosis yourself.

In certain ethnic groups, such as people with a Celtic background – which is common in Wales, Ireland, Scotland – it's quite common to be a carrier of the faulty HFE gene.

If 2 carriers have a baby, there's a:

• 1 in 4 (25%) chance the baby will receive 2 normal versions of the HFE gene, so they will not have haemochromatosis and will not be a carrier
• 1 in 2 (50%) chance the baby will inherit 1 normal HFE gene and 1 faulty one, so they'll be a carrier but will not develop haemochromatosis
• 1 in 4 (25%) chance the baby will inherit 2 copies of the faulty HFE gene and will be at risk of developing haemochromatosis

But inheriting 2 copies of the faulty gene does not mean you'll definitely get haemochromatosis.

For unknown reasons, only a small proportion of people with 2 copies of the faulty HFE gene will ever develop the condition.

Diagnosis

Haemochromatosis can usually be diagnosed with blood tests.

Speak to your GP about getting tested if:

• you have persistent symptoms of haemochromatosis – these symptoms can have a number of causes, and your GP may want to rule out some of these before arranging a blood test
• a parent or sibling has been diagnosed with haemochromatosis – even if you do not have any symptoms, you may be at risk of developing the condition

Blood tests

Several blood tests are needed to diagnose haemochromatosis.

You'll have tests to check:

• the amount of iron in your blood – known as your transferrin saturation level
• the amount of iron stored in your body – known as your serum ferritin level
• if your DNA carries a faulty gene associated with the condition

These tests will help show if you have haemochromatosis, if you're a carrier of a genetic fault linked to the condition, or if you might have another condition that causes high iron levels.

If these tests detect a problem, you'll usually be referred to a hospital specialist to discuss what the results mean and whether you might need any further tests or treatment.

Further tests

If blood tests show that you have haemochromatosis, you may need to have some further tests to check if the condition has caused any organ damage, particularly damage to your liver.

These tests may include:

• a blood test to check for substances that indicate a problem with your liver
• a liver biopsy – where a needle is used to remove a small sample of liver tissue under local anaesthetic so it can be checked for signs of damage
• an MRI scan to check for iron in your liver and look for signs of liver damage

Liver damage is 1 of the main complications of haemochromatosis.

Other causes of high iron levels

A high level of iron in the body can have several causes other than haemochromatosis, including:

• long-term liver disease
• conditions that need frequent blood transfusions, such as sickle cell disease or thalassaemia
• drinking beer brewed in iron containers 
• excess iron intake from supplements or injections
• long-term dialysis, a treatment that replicates some of the functions of the kidneys
• rare inherited conditions that affect red blood cells, the proteins that transport iron (such as atransferrinaemia) or where iron collects in the body (such as aceruloplasminaemia)

Treatment

Complications

If haemochromatosis is not diagnosed and treated early on, iron can build up in the body and cause serious problems.

Liver damage

The liver can be very sensitive to the effects of iron, and many people with haemochromatosis will have some degree of liver damage.

This often will not cause any obvious symptoms at first, but can be picked up during tests for haemochromatosis.

If significant scarring of the liver (cirrhosis) occurs, you may experience:

• tiredness and weakness
• loss of appetite
• weight loss
• feeling sick
• very itchy skin
• tenderness or pain around the liver
• yellowing of the eyes and skin (jaundice)

Cirrhosis also increases your risk of developing liver cancer.

Surgery and medication can help relieve symptoms of cirrhosis, but the only way to achieve a complete cure is to have a liver transplant.

Diabetes

Diabetes is a condition in which a person's blood sugar level becomes too high. It can occur in people with haemochromatosis if high levels of iron damage the pancreas.

The pancreas is an organ that produces insulin. Insulin is a hormone that's used to change sugar (glucose) from your diet into energy.

If the pancreas is damaged, it may not produce enough insulin, which can lead to an increase in the level of sugar in the blood.

Symptoms can include:

• needing to pee more often than usual, particularly at night
• feeling very thirsty 
• feeling very tired

Lifestyle changes such as eating healthily and exercising regularly can help, although some people need to take medication to control their blood sugar level.

Read more about how diabetes is treated.

Arthritis

In severe and advanced cases of haemochromatosis, the high levels of iron can damage the joints. This is known as arthritis.

The main symptoms of arthritis are:

• joint pain
• stiff joints
• swelling (inflammation) in the joints

It may be possible to relieve the symptoms with painkillers and steroid medicine.

But if significant damage has occurred, it may be necessary to replace the affected joint with an artificial one, such as a hip replacement or knee replacement.

Heart problems

If excess iron builds up in the heart, it can damage the muscles of the heart (cardiomyopathy).

This can lead to heart failure, which is where the heart has become so damaged it struggles to pump blood around the body properly.

Symptoms of heart failure include:

• shortness of breath
• extreme tiredness and weakness
• swelling in the legs, ankles and feet (oedema)

Heart failure can usually be treated with medicine.

Read more about how heart failure is treated.