Гемохроматоз

Haemochromatosis is an inherited condition where 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 Ireland, Scotland and Wales.

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 stopped or missed periods
• Brain fog, mood swings, depression and anxiety

Read more about symptoms of haemochromatosis

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 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.

Read more about tests 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.

• venesection (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

Read more about how haemochromatosis is treated

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.

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.

Read more about the causes of haemochromatosis

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

Read more about complications of haemochromatosis

Further support

 Symptoms Haemochromatosis 

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 do not 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)
• brain fog, mood swings, depression and anxiety
• weight loss
• weakness
• joint pain, especially in the fingers
• an inability to get or maintain an erection (erectile dysfunction)
• irregular periods or stopped or missed periods

These symptoms can have many different causes and may sometimes just be because of getting older.

Later problems

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

• loss of sex drive (libido)
• darkening of the skin, if you are white – you may look permanently tanned
• tummy (abdominal) pain and swelling
• yellowing of the skin (which may be less noticeable on brown or black skin) and the white parts of the 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 happen 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.

Read more about how haemochromatosis is diagnosed

 Causes Haemochromatosis 

Haemochromatosis is caused by a faulty gene 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 Ireland, Scotland and Wales – 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 

Haemochromatosis can usually be diagnosed with blood tests.

Speak to a GP about getting tested if:

• you have persistent symptoms of haemochromatosis – these symptoms can have a number of causes, and the 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 a:

• full blood count test
• liver test
• a transferrin saturation level test (Tsat) to check how much iron in the blood is bound to the protein transferrin. This shows if you have a high iron level in the blood
• a serum ferritin level test to check the amount of iron stored in your body

If your blood tests suggest haemochromatosis, you'll have a test to see if your DNA carries the gene associated with the condition.

Read about the causes of haemochromatosis.

These tests will help show if you have haemochromatosis, if you're a carrier of a faulty gene 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 liver ultrasound (Fibroscan) or MRI (liver multiscan)
• an ECG or echo - to check your heart
• rheumatology - check for joint diseases, such as arthropathy
• endrocrinology - to check for diabetes or Addison’s disease
• a DEXA scan - to check for osteoporosis

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
• alcohol misuse
• 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 Haemochromatosis 

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

This can help relieve some of the symptoms and reduce the risk of damage to organs such as the heart, liver and pancreas.

Venesection (phlebotomy)

The most commonly used treatment for haemochromatosis is a procedure to remove some of your blood, known as a venesection or phlebotomy.

The procedure is similar to giving blood. You lie back in a chair and a needle is used to drain a small amount of blood, usually about 500ml, from a vein in your arm.

The removed blood includes red blood cells that contain iron, and your body will use up more iron to replace them, helping to reduce the amount of iron in your body.

There are 2 main stages to treatment:

• induction – blood is removed on a frequent basis (usually weekly) until your iron levels are normal; this can sometimes take up to a year or more
• maintenance – blood is removed less often (usually 2 to 4 times a year) to keep your iron levels under control; this is usually needed for the rest of your life

Chelation therapy

A treatment called chelation therapy may be used in a small number of cases where regular phlebotomies are not possible because it's difficult to remove blood regularly – for example, if you have very thin or fragile veins.

This involves taking medicine that removes iron from your blood and releases it into your urine or poo.

Commonly used medicines are deferasirox and desferrioxamine.

Deferasirox is unlicensed for the treatment of haemochromatosis, which means it has not undergone extensive clinical trials for this use. But your doctor may recommend it if they feel the possible benefits outweigh any risks.

Diet and alcohol

You do not need to make any big changes to your diet, such as avoiding all foods containing iron, if you have haemochromatosis.

This is unlikely to be of much extra help if you're having 1 of the treatments above, and could mean you do not get all the nutrition you need.

You'll usually be advised to:

• have a generally healthy, balanced diet
• avoid breakfast cereals that have been "fortified" with extra iron
• avoid taking iron and vitamin C supplements – these may be harmful for people with high iron levels
• be careful not to eat raw oysters and clams – these may contain a type of bacteria that can cause serious infections in people with high iron levels
• avoid drinking excessive amounts of alcohol – this can increase the level of iron in your body and put extra strain on your liver

 Complications Haemochromatosis 

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 medicine 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 happen 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 medicine to control their blood sugar level.

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, often finger joints
• stiff joints
• swelling (inflammation) in the joints

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

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.