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Iron overload disorder





NHS Choices Syndication


Haemochromatosis

Causes of haemochromatosis

Haemochromatosis is caused by a fault in a specific gene, known as HFE, which can be inherited from your parents. This faulty gene allows your body to absorb excess amounts of iron from food.

Normally, the body maintains a steady level of iron. The iron is absorbed from food and the amount absorbed varies according to the body’s need for it.

People with haemochromatosis cannot control levels of iron in their bodies in this way. As a result, iron builds up over time and is usually deposited in the liver, pancreas, joints, heart or endocrine glands. 

Inheriting the HFE gene

Everyone receives two sets of genes – one from their father and one from their mother. If a person receives one set that includes the mutated HFE gene and one that does not, they won’t develop symptoms but they will be a carrier of the HFE mutated gene.

In some ethnic groups, such as people of Irish descent, as many as one in 10 may be a carrier of the HFE mutation.

If a carrier of the mutated HFE gene mutation has a baby with another carrier there’s a significant chance the baby will receive two sets of the HFE gene and develop haemochromatosis.

The likelihood of the child being affected is as follows:

  • there is a one in four chance that the baby will receive a pair of normal HFE genes and be unaffected
  • there is a one in two chance that the baby will receive one normal HFE gene and one mutated HFE gene – this means they will not have haemochromatosis but they will be a carrier of the condition
  • there is a one in four chance that the baby will receive a pair of mutated HFE genes and possibly develop iron overload later in life

It’s important to note that less than 10% of people who inherit two mutated genes (one from each parent) will actually develop symptoms and signs of iron overload.

The reason for this is not known but there are likely to be other genes inherited from each parent that influence whether the symptoms or signs appear. These genes are not currently identified so there is no genetic test available to identify who will go on to develop diabetes, liver, endocrine or heart disease.   

Published Date
2014-09-11 15:31:28Z
Last Review Date
2014-07-28 00:00:00Z
Next Review Date
2016-07-28 00:00:00Z
Classification
Haemochromatosis






NHS Choices Syndication


Haemochromatosis

Complications of haemochromatosis

Complications of haemochromatosis are more likely to occur if the condition is not diagnosed early.

Some of the more serious complications of haemochromatosis are outlined below.

Liver disease

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

But the liver is a relatively tough and resilient organ so you may experience no noticeable symptoms even if your liver has become damaged. If testing does show that this is the case you may be told to avoid drinking alcohol as a precaution.

If significant scarring of the liver (cirrhosis) occurs you may experience symptoms such as:

  • 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)

More severe symptoms of advanced cirrhosis include vomiting blood and passing out bloody stools (poo) – both of which are caused by internal bleeding.

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

However, not everyone is suitable for a liver transplant and the demand for transplanted livers is far higher than the supply, so there is often a long waiting time for a transplant to become available.

Cirrhosis also increases your risk of developing liver cancer. Treatment options for liver cancer include chemotherapy, radiotherapy and removing a section of the liver.

In a small number of cases it may be possible to treat liver cancer with a liver transplant.

Arthritis

In more severe and advanced cases of haemochromatosis, permanent damage, stiffness and inflammation (swelling) can occur in one or more of your joints. This is known as arthritis.

In some cases it may be possible to relieve symptoms of arthritis with medication such as the non-steroidal anti-inflammatory drugs (NSAIDs) type of painkillers and corticosteroids (steroid medication).

In more severe cases where significant damage has occurred it may be necessary to replace the damaged joint with an artificial one, such as a hip replacement or knee replacement.

Heart failure

If excess iron is allowed to build up in and around the heart it can damage the muscles of the heart (cardiomyopathy).

This can lead to heart failure, which is when your heart has become so damaged it struggles to pump enough blood to meet the demands of the body.

Symptoms of heart failure include:

  • breathlessness (dyspnoea) when you’re more active than usual or sometimes when you’re resting
  • extreme tiredness and weakness
  • swelling in the legs, ankles and feet (oedema)

Heart failure can be treated using a combination of:

  • lifestyle changes, such as becoming more physically active to strengthen your heart
  • medications such as beta-blockers, which slow your heart rate reducing the strain on your heart

Read more about the treatment of heart failure.

Published Date
2014-09-11 15:32:17Z
Last Review Date
2014-07-28 00:00:00Z
Next Review Date
2016-07-28 00:00:00Z
Classification
Haemochromatosis






NHS Choices Syndication


Haemochromatosis

Diagnosing haemochromatosis

Haemochromatosis can be difficult to diagnose as many of the typical symptoms can also result from other conditions.

Haemochromatosis is often diagnosed during testing for unrelated conditions.

Unless you have a family history of the condition, it may take a while before a correct diagnosis is confirmed.

If you do have a family history of haemochromatosis it’s important to tell your GP.

Screening

If a close family member (mother, father, brother or sister) is diagnosed with haemochromatosis, there is a chance you will also develop haemochromatosis.

The chance could be as high as one in four if your brother or sister is diagnosed, so you may want to be tested for the condition yourself.

Similarly, family members, including any children you have, may want to be tested if you are positively diagnosed.

Blood tests

Haemochromatosis is usually diagnosed using blood tests, which may include:

  • transferrin saturation – a blood test that indicates how much iron is readily available for use in the body
  • serum ferritin – a blood test that indicates the amount of iron stored in the body

If tests detect high levels of iron in your body you will be referred for a more detailed blood test, where a sample of your DNA is checked for the HFE mutation.

This genetic test will usually confirm or rule out the diagnosis and also determine whether a person is a carrier of the HFE mutation. People who carry the mutation do not develop symptoms and signs of iron overload.

Liver biopsy

A liver biopsy may be recommended if tests reveal high levels of iron or there are enzymes present that indicate liver damage.

A liver biopsy involves taking a small sample of liver tissue. A hollow needle is injected into your skin and then into your liver and a sample of the tissue is taken. The injection is not painful as the skin is numbed with local anaesthetic.

The sample is then checked to see if the tissue is hardened, scarred or has cancer cells in it – all of which would indicate some degree of liver disease.

Published Date
2014-09-11 15:31:48Z
Last Review Date
2014-07-28 00:00:00Z
Next Review Date
2016-07-28 00:00:00Z
Classification
Blood tests,Haemochromatosis






NHS Choices Syndication


Haemochromatosis

Introduction

Haemochromatosis is an inherited disorder in which iron levels in the body slowly build up over many years, which is why it’s sometimes called iron overload disorder.

The excess levels of iron can then trigger symptoms such as:

Read more about symptoms of haemochromatosis.

What causes haemochromatosis?

Haemochromatosis is an inherited condition caused by a faulty gene called HFE, that allows a person to absorb too much iron from food. Normally, the body only absorbs as much as it needs.

The excess iron starts building up in the body and causing problems.

Read more about the causes of haemochromatosis.

Complications

If haemochromatosis is left untreated, the extra iron accumulates in the body, usually in organs, such as the heart and liver.

This can lead to potentially serious complications such as:

Read more about complications of haemochromatosis.

Treatment

Haemochromatosis responds well to treatment, which aims to remove excess iron from the body.

The usual treatment is quite simple. Blood is removed from the body on a regular basis – about the same amount taken in a blood donation, around 500ml (roughly a pint).

This leads to an overall drop in iron levels.

For people unable to use phlebotomy for medical reasons, a medication called deferasirox can be used as an alternative. This is known as chelation therapy.

Read more about treating haemochromatosis.

Screening

Routine screening for haemochromatosis is not offered by the NHS because it’s a relatively uncommon condition.

However, if a close family member (a parent, brother or sister) is diagnosed with haemochromatosis you may want to consider getting tested for the condition yourself. Initial screening is done by blood test.

Read more about diagnosing haemochromatosis.

Living with haemochromatosis

Most people will be able to keep their haemochromatosis symptoms under control, but there are steps that can be taken to keep iron levels low and prevent complications.

For example:

  • reduce your consumption of red meat (such as beef and lamb) and avoid organ meat (such as liver, kidney and heart) – iron is much more readily absorbed from meat than from vegetables, cereals and beans
  • avoid taking iron supplements and eating foods fortified with iron, such as breakfast cereals
  • reduce the amount of vitamin C you consume, as this increases absorption of iron and helps it deposit in some organs
  • avoid drinking too much alcohol, especially with meals, as this can increase iron absorption and cause liver disease – if you do have some degree of liver disease you may be advised to avoid alcohol completely
  • consume tea and dairy products with a meal to reduce the amount of iron absorbed

Who is affected

Haemochromatosis is uncommon in general terms, although it’s one of the most common genetic (inherited) conditions in England.

As many as one person in 200 may be affected.

Symptoms usually start in adults between the ages of 30-50. Symptoms in women are often delayed because their iron levels are reduced when they have a period.

Haemochromatosis is most common in people of white European ethnic background – particularly people of Irish descent.

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Published Date
2014-09-11 15:31:02Z
Last Review Date
2014-07-28 00:00:00Z
Next Review Date
2016-07-28 00:00:00Z
Classification
Abdominal pain,Haemochromatosis






NHS Choices Syndication


Haemochromatosis

Symptoms of haemochromatosis

Symptoms of haemochromatosis usually begin in adults between the ages of 30-50, although they can sometimes occur much earlier in life.

Most people with haemochromatosis have no symptoms and discover they have the condition during a routine blood test, or after attending screening due to a family history of the condition.

Initial symptoms of haemochromatosis can include:

As the condition progresses it can trigger additional symptoms such as:

  • loss of libido (sex drive) – both men and women can be affected
  • a change in skin colour such as looking bronzed or tanned
  • enlargement of the liver which may be noticeable to the touch – in turn this can cause abdominal pain and yellowing of your eyes and skin (jaundice)
  • a build-up of sugar in the blood (diabetes) which can cause symptoms such as feeling thirsty all the time, frequent passing of urine and weight loss
  • severe pain and stiffness in your joints (arthritis) –  finger joints are the most commonly affected
  • damage to the muscles of your heart (cardiomyopathy) which can cause chest pain, shortness of breath and swelling of your hands and feet

Published Date
2014-09-11 15:31:15Z
Last Review Date
2014-07-28 00:00:00Z
Next Review Date
2016-07-28 00:00:00Z
Classification
Abdominal pain,Haemochromatosis






NHS Choices Syndication


Haemochromatosis

Treating haemochromatosis

Haemochromatosis is usually treated with a procedure called a phlebotomy, which involves removing iron-rich blood from the body in a similar way to blood donation.

The amount removed is roughly the same as the amount removed in a blood donation – around 500ml (just under a pint).

There are two stages in phlebotomy therapy:

  • induction – where blood is removed on a frequent basis (usually weekly) until your iron levels are normal (this can sometimes take up to a year) 
  • maintenance – where blood is removed on a less frequent basis (usually every two to four months) to keep your iron levels under control

Chelation therapy

There may be some circumstances in which you are unable to be treated with phlebotomy for medical reasons, for example if you have:

  • heart disease
  • anaemia (lack of red blood cells)
  • unusually thin or fragile veins that make it difficult to remove your blood

In this case, an alternative treatment involves taking medication to help remove iron from your blood, known as chelation therapy.

Deferasirox is a medication increasingly used during chelation therapy. It works by locking on to or binding the iron molecules in the body, before releasing them through urine or stools.

Deferasirox is available in tablet form and most people need to take one tablet a day.

Side effects of deferasirox include:

These side effects should pass once your body gets used to the effects of the medication.

Deferasirox is unlicensed for the treatment of haemochromatosis. This means deferasirox has not undergone clinical trials to determine whether it is effective and safe to treat the condition.

However, some experts will use an unlicensed medication if they think it’s likely to be effective and the benefits of treatment outweigh any associated risk. This is thought to be the case with deferasirox.

If your specialist is considering prescribing an unlicensed medication to treat haemochromatosis, they should tell you it’s unlicensed and discuss possible risks and benefits with you.

Published Date
2014-09-11 15:32:01Z
Last Review Date
2014-07-28 00:00:00Z
Next Review Date
2016-07-28 00:00:00Z
Classification
Haemochromatosis


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