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Thalassaemia is the name given to a group of inherited blood disorders that affect the body’s ability to create red blood cells.
Red blood cells
Red blood cells are very important because they carry a protein called haemoglobin around the body. Haemoglobin transports oxygen from the lungs to the rest of the body.
Haemoglobin is produced in the bone marrow (a red spongy material found inside the larger bones) using the iron that our body takes from food.
If your body does not receive enough oxygen, you will feel tired, breathless, drowsy and faint. This condition is known as anaemia. The most serious types of thalassaemia can cause other complications, including organ damage, restricted growth, liver disease, heart failure and death.
Types of thalassaemia
Thalassaemia is caused by alterations (mutations) in the genes that make haemoglobin.
Haemoglobin is made up of matching chains of proteins (which are named after Greek letters of the alphabet). To work properly, haemoglobin needs both an alpha chain and a beta chain of proteins.
A mutation that affects the alpha chain causes alpha thalassaemia, and a mutation that affects the beta chain causes beta thalassaemia.
The alpha chain is produced by four genes and the severity of the condition depends on how many of those genes have been mutated.
Beta thalassaemia can range from moderate to severe. The most severe form of the condition is known as beta thalassaemia major (BTM). People with BTM will require blood transfusions for the rest of their life.
The more moderate form of the condition is known as beta thalassaemia intermediate (BTI). The symptoms of BTI will vary from person to person. Some will experience only symptoms of mild anaemia while others will require blood transfusions.
The only known cures for thalassaemia are a bone marrow transplant and cord blood transplantations (using blood cells taken from an unborn baby carried by a mother who also has an older affected child). These procedures can cause other complications and are not suitable for everyone.
This article will focus mainly on BTM because it is the most common and severe form of the condition in the UK. While alpha thalassaemia can be found in the UK, particularly among people of South Asian and Southeast Asian descent, it is typically the mildest form of the condition.
How common is BTM?
BTM is an uncommon disorder. It is estimated that there are 1,000 people in the UK living with BTM and most cases are found in people of Mediterranean, Middle Eastern and, in particular, South Asian ancestry. Eight out of 10 babies born with BTM in the UK have parents of Indian, Pakistani or Bangladeshi ancestry.
BTM can be challenging to live with, but the outlook for the condition is moderately good.
One of the biggest problems with BTM is that it requires frequent blood transfusions, which in turn can lead to a build-up of iron in the body. This can cause serious health problems.
In the past, almost all children with BTM would die before the age of 18 due to a build-up of iron in their heart.
The outlook improved dramatically during the 1960s, as new medications and treatments that helped remove iron from the body became available. These types of treatment are known as chelation therapy. An increasing number of people with BTM now live into old age.
Most babies born with beta thalassaemia will not show any symptoms until they are around six months old. This is because infants begin life with a different sort of haemoglobin, known as foetal haemoglobin. This haemoglobin is replaced by normal haemoglobin six months after birth.
Symptoms of beta thalassaemia include:
Children with beta thalassaemia major (BTM) or severe beta thalassaemia intermediate (BTI) may also experience skeletal deformities (where the bones grow in unusual ways), as their body tries to compensate for the lack of haemoglobin by producing more bone marrow.
If you have BTM, your body will absorb more iron from food in an effort to make more haemoglobin, which sometimes can lead to an excess of iron. Too much iron can cause tissue damage, particularly to the liver and spleen, making the body more vulnerable to infection.
Iron can also affect the body’s hormonal system, meaning that the development of the body during puberty may be delayed, or never happen at all.
Left untreated, BTM puts an intolerable strain on the body, and children with the condition are unlikely to live for more than five years. Death is usually the result of heart failure or infection.
It is thought that the series of genetic mutations associated with thalassaemia originally evolved as a defence against malaria. Those with mutated forms of haemoglobin had a higher resistance against malaria.
This is why thalassaemia, and other related genetic blood disorders such as sickle cell anaemia, are more common in parts of the world where malaria was rife, such as:
How thalassaemia is inherited
Every person receives two sets of genes, one from their father and one from their mother. If a person receives one set of mutated genes, they will have the thalassaemia trait.
If they then have a baby with somebody who also has the thalassaemia trait, there is significant chance that the baby will receive two sets of mutated genes and develop thalassaemia.
The chances of the thalassaemia trait being passed on are outlined below:
If one parent has the thalassaemia trait and the other parent has normal haemoglobin, their baby will not get thalassaemia. However, there is a one-in-two chance that the baby will receive the thalassaemia trait.
Beta thalassaemia affects the two genes that the body uses to produce the beta chain found in haemoglobin. (Haemoglobin needs both an alpha and beta chain to work properly.)
If only one gene is mutated, the result is the beta thalassaemia trait. This produces either very mild symptoms of anaemia or, more commonly, none at all.
Beta thalassaemia major (BTM) occurs when both genes that produce the beta chain mutate. People with BTM are unable to produce normal haemoglobin and will require regular blood transfusions for the rest of their life.
Thalassaemia can be diagnosed using a blood test. Further DNA testing of the blood may be required so that the exact type of thalassaemia can be determined.
The purpose of antenatal screening (screening that is carried out during pregnancy) is to check for inherited disorders such as sickle cell anaemia and to provide parents with the information they need to make informed decisions.
Antenatal screening for the thalassaemia trait is available in areas where the condition is most common. These are typically cities and towns that have large South Asian communities. In areas where thalassaemia is uncommon, a questionnaire on family origin is used as an initial screening tool to assess the risk of thalassaemia.
Pregnant women are routinely screened for the thalassaemia trait. If they test positive for the trait, their partner will also be offered the test. If both parents have the thalassaemia trait, there is a 1 in 4 chance that their baby will have sickle cell anaemia.
Further testing is available (if you want it) to confirm whether your baby will definitely be born with thalassaemia. One method of doing this is to take a sample of cells from the placenta (the organ that is attached to the womb lining during pregnancy). This test is commonly known as chorionic villus sampling (CVS).
Being told that your baby will be born with thalassaemia can be traumatic and upsetting. You will be offered counselling to give you and your partner the opportunity to express your feelings and to ask questions about how the diagnosis may affect you.
The counsellor will inform you of the different options available to you, allowing you to make a more informed decision about how to proceed with the pregnancy.
Pre-implantation genetic diagnosis (PIGD)
Pre-implantation genetic diagnosis (PIGD) is an option for couples who do not want to give birth to a child with thalassaemia but who are unwilling to consider terminating a pregnancy.
PIGD is similar to in-vitro fertilisation (IVF). IVF is a method of helping infertile couples to conceive by surgically removing an egg from the woman's ovaries and fertilising it with the man’s sperm in a laboratory.
As with IVF, PIGD involves removing eggs from a woman’s ovaries, which are fertilised using a sample of sperm that is taken from her partner. The fertilised embryo can be tested for thalassaemia. If the results of the test are negative, the embryo can then be implanted into the woman’s womb.
PIGD is a new procedure that is only available at a number of specialist thalassaemia centres.
Unlike the related disorder sickle cell anaemia, newborn babies are not regularly screened for thalassaemia. There are two reasons for this:
If your baby does begin to develop symptoms as they grow older, the diagnosis can be confirmed using a blood test.
Assessing iron levels
People with beta thalassaemia major (BTM) will require regular blood transfusions, which will increase the level of iron in their body.
To remove the excess iron, they must have treatment called chelation therapy (see Thalassaemia – treatment for more information). This helps prevent serious complications from excess iron, such as heart or liver disease.
Regular tests to measure iron levels are required to monitor the effectiveness of chelation therapy.
There are three main ways of assessing iron levels:
Blood tests provide a convenient way of measuring the amount of iron in your blood, although they do not provide a detailed assessment of how much iron may be collecting in certain organs, such as your brain. The measurements provided by blood tests can also be distorted by other factors, such as infection.
Blood tests are used to provide a general overview of how well your chelation therapy is working, but cannot be used in isolation.
It is usually recommended that a person with thalassaemia receives a blood test at least every three months.
A magnetic resonance imaging (MRI) scan uses powerful magnetic waves to build up a detailed picture of the inside of your body. MRI scans are able to detect and then measure any iron in your organs.
The two organs known to be most vulnerable to the effects of iron are the liver and the heart.
It is usually recommended that you have an MRI scan of your liver at least once a year and an MRI scan of your heart at least once every two years. More frequent scans may be required if high levels of iron are found in your heart and liver.
A liver biopsy uses minor surgery to remove a tiny section of your liver to test it for the presence of iron.
An MRI scan is usually preferred to a liver biopsy as it is more convenient (for both the doctor and the person having the scan). However, if a detailed assessment of the level of iron in the body is required, a liver biopsy may need be carried out.
Beta thalassaemia major (BTM)
Treatment for beta thalassaemia major (BTM) is a lifelong process which requires many different specialists to manage the complications of the condition.
If your child is diagnosed with BTM, they will be referred to a specialist clinic so a full assessment of the condition can be made.
The main treatment for BTM involves regular blood transfusions to provide the haemoglobin that the body needs. Regular blood transfusions can also prevent many of the complications of BTM, such as skeletal deformities.
Most people with BTM will require a transfusion every two to four weeks. The transfusion process takes four to six hours and will take place in a hospital. A small number of families living with thalassaemia have requested training to enable them to administer blood transfusions at home.
Blood transfusions are extremely safe due to the rigorous screening methods used for donated blood. However, the one drawback of regular blood transfusions is that they leave an excess of iron in the body. This, combined with the additional iron taken from food, means that people who receive blood transfusions for BTM must undergo treatment to remove the excess iron from their body. This treatment is known as chelation therapy.
Chelation therapy is vital for people with BTM. Excess iron damages the body’s cells and, over time (if left untreated), leads to extensive damage to organs.
Areas of they body particularly vulnerable to the effects of iron include:
See Thalassaemia – complications for more information about the complications that can arise from an overload of iron.
Chelation therapy will normally need to begin once your child has received 10-20 blood transfusions.
Medications used in chelation therapy are known as chelating agents. There are three chelating agents currently available, each with their own set of advantages and disadvantages:
DFO binds to iron molecules in the body and then releases them in urine or stools. It is thought to be the most effective chelating agent. However, it takes a long time and is inconvenient to administer.
DFO is usually given through a pump that slowly feeds the medicine through a needle into your child’s skin. This is known as an infusion.
As DFO takes a long time to start working, children will often need to have an infusion that lasts 10-12 hours, five to six nights a week. You and your child will be trained to administer the chelation therapy at home.
Taking DFO can be frustrating, especially for children and teenagers. While such feelings are understandable, it is important to emphasise to your children how important it is to take their DFO as directed, as missing any doses could increase their risk of developing serious complications.
It is common to develop pain, swelling, itchiness and redness at the site of the injection.
Other common side effects of DFO include:
If side effects become particularly troublesome or severe, tell your treatment team as your child’s dose may need to be adjusted or an additional chelating agent may be required.
DFP also binds to iron molecules in the body and releases them in urine.
DFP is available in tablet or liquid form, so is much more convenient to take. However, DFP is not usually as effective as DFO, particularly in preventing liver damage, so it is normally used in combination with DFO. Combining the two chelating agents means that children do not have so many infusions each week (usually two a week, as opposed to five or six).
Another disadvantage of DFP is that it causes a wider range of potential side effects, some of which can be serious. Common side effects include:
Potentially, the most serious side effect of DFP is agranulocytosis. Agranulocytosis is a condition where bone marrow no longer produces enough white blood cells. The body uses white blood cells to protect against infection, so agranulocytosis makes you extremely vulnerable to infection. If infection occurs, it could be very serious.
Most episodes of agranulocytosis occur during the first year of taking DFO, but episodes have been reported after many years of treatment. Therefore, it is important to look out for any sign of a possible infection, such as:
If you develop symptoms that suggest you may have an infection, immediately stop taking DFP and contact your treatment team for advice.
DFX is a relatively new type of chelating agent that was licensed for use in the UK in 2006.
There is only a limited amount of evidence on how effective or safe the medication may be in the long term, but it appears to work as well as DFO in some people. However, the use of DFX as an alternative to DFO is not usually recommended in people with high levels of iron in their heart.
DFX is available in tablet form. Common side effects include:
These side effects are usually mild to moderate and usually resolve once your body gets used to the medication.
There have been reports of people developing liver failure when taking DFX, with some cases resulting in death. However, most of these people already had a history of liver disease or another serious illness. As a precaution, you will be given regular liver function tests when taking DFX so the state of your liver can be carefully monitored.
There have also been reports of people developing stomach ulcers and internal bleeding when taking DFX. As a precaution, look out for symptoms such as:
If you experience any of the symptoms above, stop taking DFX and contact your GP immediately. If this is not possible, contact your local out-of-hours service or call NHS Direct Wales on 0845 46 47.
Bone marrow transplant
One possible cure for thalassaemia is a bone marrow transplant. The procedure involves replacing the affected bone marrow with bone marrow donated from someone who does not have thalassaemia. The new bone marrow then begins producing healthy blood cells.
There are significant risks involved in having a bone marrow transplant. The new bone marrow can start producing cells that attack parts of your body. This is known as graft-versus-host disease (GVHD).
GVHD can affect many parts of your body, although your eyes, skin, stomach and intestines are most commonly affected. Symptoms of GVHD include:
Other risks related to bone marrow transplants include an increased risk of strokes, seizures and tumours. For more information about bone marrow transplants, see the A-Z topic about Bone marrow transplant - risks.
All families who have a child with a serious thalassaemia condition will be offered the opportunity to discuss bone marrow transplant as a possible treatment.
There is a greater chance of successfully treating thalassaemia using a bone marrow transplant when:
All human tissue carries a special genetic 'marker' or code, known as a human leukocyte antigen (HLA). As there are several billion possible combinations of HLA, it is extremely unlikely that the right type of bone marrow will be found from somebody who is not related.
The survival and success rates for a bone marrow transplant depend on a series of risk factors. The risk factors are:
The probabilities for successful bone marrow transplant treatment in children under 16 who are receiving bone marrow from an HLA-matched donor are outlined below:
Cord blood transfusion
Another possible cure for thalassaemia is cord blood transfusion. This involves testing the HLA tissue type of an unborn baby without thalassaemia that is carried by a mother who already has a child with thalassaemia.
If the HLA of the unborn baby matches that of the older brother or sister, it is possible to take a sample of blood from the umbilical cord that can be used at a later date for transfusion.
This blood, known as cord blood, is useful because it is a rich source of stem cells. Stem cells can be used instead of bone marrow because they are capable of producing healthy red blood cells.
The advantage of cord blood transfusions is that there is a lower chance of GVHD occurring and the HLA match does not need to be as accurate as that needed for a bone marrow transplant.
To date, the number of cord blood transfusions for thalassaemia has been limited. Therefore, definitive information about the survival and success rates of the treatment is unavailable. However, one small study placed the success rate at 79% and there were no deaths.
If you are a mother of a child with thalassaemia and you conceive another child who does not have thalassaemia, your thalassaemia clinic can arrange for your unborn child to have their HLA type tested to see if they would be able to donate cord blood.
Beta thalassaemia intermediate (BTI)
Treatment for beta thalassaemia intermediate (BTI) depends on the severity of the symptoms. Some people will just require folic acid supplements to help with the production of healthy red blood cells. Others will require occasional blood transfusions and chelation therapy, while those with the most severe symptoms will require a treatment programme that is similar to the one used for people with beta thalassaemia major (BTM).
If you have BTI, you will require regular check-ups so the progress of your condition can be monitored and any associated complications can be assessed.
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Complications of thalassaemia
One of the most challenging aspects of living with and treating beta thalassaemia major (BTM) is the number of possible complications that can occur. People with BTM (and some people with moderate-to-severe BTI) will need frequent check-ups, so the risk of possible complications can be regularly assessed.
Some common complications of BTM are outlined below.
Enlarged spleen (hypersplenism)
One of the functions of the spleen (an organ found behind the stomach) is to recycle red blood cells. In people with BTM, the blood cells are often abnormal in shape, so the spleen has problems recycling them. The result is that an increasing amount of blood stays in the spleen, making it grow larger.
This can lead to the spleen becoming overactive, when it starts to destroy the healthy blood cells that are received during blood transfusions, making effective treatment for BTM difficult. In these circumstances, the only treatment is to remove the spleen using a procedure known as a splenectomy.
The spleen also plays an important part in fighting infections. Therefore, if your child has their spleen removed, it is likely that vaccinations against potentially serious infections, such as meningitis and flu, will be recommended.
Encourage your child to be alert to the possible symptoms of infections, such as muscle pain or fever, and report them as soon as possible. This is because infections could have a more serious effect on them than most people.
One of the glands that regulates the hormone system (the pituitary gland) is very sensitive to the effects of iron. It can, therefore, become damaged in some people with BTM, even if they stick to their chelation therapy.
Damage to the pituitary gland can result in a number of hormonal conditions, including delayed puberty and restricted growth. Hormone replacement therapy may be needed to correct these conditions.
Other complications that can appear after puberty include diabetes and underactive or overactive thyroid gland.
Children with BTM will need to have their height and weight checked every six months to see if they are developing normally. Teenagers who have begun puberty will need to have their development assessed every year.
Iron overload can cause damage to the heart, leading to:
If you have BTM, you will need to have a check-up every six months to determine how well your heart is functioning. Every year, you will also need to have a full examination, carried out by a cardiologist (heart specialist), using an electrocardiogram (ECG) test to measure the electricity of your heart.
If damage to your heart is detected, it can be stopped and possibly reversed using more extensive chelation therapy. Medication, such as angiotensin-converting enzyme (ACE) inhibitors, can also be used to improve the functioning of your heart.
Iron overload can also cause damage to the liver, resulting in:
Chelation therapy can prevent further damage to the liver and antiviral medicines can be used to prevent further liver infection. Liver tests are recommended every three months to monitor the condition of the liver.
If your body is not receiving enough healthy red blood cells, it will try to compensate by expanding the bone marrow, which in turn will expand the bones. This can lead to skeletal deformities, bone and joint pain and osteoporosis (a condition where the bones become thin and brittle.)
Low bone density is common, even in people who have been receiving regular blood transfusions. Those with low bone density are at increased risk of fracturing (breaking) their bones.
People with BTM are encouraged to eat a diet that is high in calcium and vitamin D, both of which help strengthen the bones. Foods that are high in calcium include:
Foods that are high in vitamin D include:
You may also be advised to take vitamin D and calcium supplements.
Regular exercise can also help strengthen bones. People with BMT should try to do a minimum of 30 minutes of exercise, at least three to four times a week. Two types of activity that are particularly important in improving bone density and helping prevent osteoporosis are weight-bearing exercises, such as running and aerobics, and resistance exercises, such as weight training and press-ups.
Osteoporosis can be treated using medicines called bisphosphonates, which help maintain bone density and reduce the chances of fracture. However, bisphosphonates are not recommended for children and teenagers because they can interfere with normal bone development.
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