Thalassaemia - Treating thalassaemia

Treatment for beta thalassaemia major (BTM) is a lifelong process that requires different specialists to manage the complications of the condition.

If your child is diagnosed with BTM, they'll be referred to a specialist clinic so that they can be fully assessed.

Blood transfusions

The main treatment for BTM involves having regular blood transfusions to provide the haemoglobin that the body needs. Having regular blood transfusions can also help prevent many of the complications of BTM, such as skeletal deformities.

Most people with BTM will need a blood transfusion every two to four weeks. The transfusion process takes four to six hours and will usually take place in a hospital.

Blood transfusions are very safe because of the rigorous screening methods used for donated blood. However, a problem associated with having regular blood transfusions is that they leave too much iron in the body.

An excess amount of iron left in the body combined with additional iron from food means that people who have blood transfusions for BTM must also have treatment to remove excess iron from their body. This treatment is known as chelation therapy.

Chelation therapy

Chelation therapy is vital for people with BTM because excess iron damages the body's cells. Left untreated, it can lead to extensive organ damage.

Treatment with iron chelation therapy is usually lifelong, but it's reassessed regularly and may be altered.

Areas of the body that are particularly vulnerable to the effects of iron include:

the heart – excess iron can cause irregular heartbeats (arrhythmias), heart failure (where the heart can't pump enough blood around the body) and, most seriously, cardiac arrest (when the heart stops beating)
the liver – excess iron can cause hardening of the liver (fibrosis) and scarring of the liver (cirrhosis)
the glands that produce the body's hormones – excess iron can cause diabetes and delayed growth and sexual development

Read more about complications of thalassaemia that can arise from an overload of iron.

Chelation therapy will usually need to begin once your child has received 10 to 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. They are:

Desferrioxamine (DFO)

Desferrioxamine binds to iron molecules in the body and releases them in urine and stools. It's thought to be the most effective chelating agent. However, it takes a long time to work and is inconvenient to administer.

DFO is usually given through a pump that slowly feeds the medicine through a needle into the skin. This is known as an infusion.

As DFO takes a long time to start working, children will often need an infusion that lasts 10 to 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, particularly for children and teenagers. While such feelings are understandable, it's important to emphasise to your children how important it is to take DFO as directed, because missing doses could increase their risk of developing serious complications.

It's common to develop pain, swelling, itchiness and redness at the site of the injection. A headache and nausea are also common side effects of DFO.

Tell your treatment team if side effects become particularly troublesome or severe. Your child's dose may need to be adjusted or an additional chelating agent may be required.

Deferiprone (DFP)

Deferiprone also binds to iron molecules in the body and releases them in urine.

It's available in tablet or liquid form, so is more convenient to take than DFO. However, DFP isn't as effective as DFO, particularly in preventing liver damage, so it's usually used in combination with DFO. Combining the two chelating agents means children don't 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:

nausea
abdominal pain
headache
vomiting
joint pain
diarrhoea
fatigue

Agranulocytosis is potentially the most serious side effect of DFP. It's 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 serious infection.

Most episodes of agranulocytosis occur during the first year of taking DFO, although episodes have been reported after many years of treatment. It's therefore important to look out for any sign of a possible infection, such as:

a high temperature of 38°C (100.4°F) or above
muscle and joint pain
chills
shortness of breath

If you develop symptoms that suggest you may have an infection, stop taking DFP immediately and contact your treatment team for advice. Extra blood tests will be recommended to check the white blood count more frequently.

Deferasirox (DFX)

Deferasirox is a relatively new type of chelating agent that was licensed for use in the UK in 2006.

There's only a limited amount of evidence regarding 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, using DFX as an alternative to DFO isn't usually recommended in people with high levels of iron in their heart.

DFX is available in tablet form. Common side effects include:

nausea
vomiting
diarrhoea
abdominal pain
skin rash

These side effects are often 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'll be given regular liver function tests when taking DFX so that the health of your liver can be carefully monitored. Extra kidney tests will also be carried out during treatment.

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:

vomiting blood (the blood can appear bright red or have a darker, grainy appearance similar to coffee granules)
passing dark, tar-like stools (faeces)
a sudden sharp pain in your abdomen (tummy) that gets steadily worse

If you experience any of the symptoms above, stop taking DFX and contact your GP immediately. If this isn't possible, contact your local out-of-hours service or call NHS 111.

Bone marrow transplant

A bone marrow transplant is a possible cure for thalassaemia. It involves replacing affected bone marrow with bone marrow donated from a healthy donor. The new bone marrow will begin to produce healthy blood cells.

There are significant risks involved in having a bone marrow transplant. For example, 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 the eyes, skin, stomach and intestines are most commonly affected. Symptoms of the condition include:

red spots on the hands, feet and face that spread across the body to form a rash that may later develop into blisters
high temperature (fever) of 38°C (100.4°F) or above
bloody or watery diarrhoea
stomach cramps
jaundice (yellowing of the skin and whites of the eyes)

Other risks related to bone marrow transplants include an increased risk of strokes, seizures and tumours.

Read more about the risks of bone marrow transplants.

All families with a child with serious thalassaemia will be given the opportunity to discuss bone marrow transplantation as a possible form of treatment.

There's a greater chance of successfully treating thalassaemia using a bone marrow transplant when:

the child is under 16 years of age – younger children have less organ damage from thalassaemia, so their chances of survival are greater
the child receives the transplanted bone marrow from a brother or sister who shares the same genetic tissue type

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's extremely unlikely that the right type of bone marrow will be found from somebody who is not related to you.

The survival and success rates for a bone marrow transplant depend on a series of risk factors. The risk factors are:

an enlarged liver
liver damage
previous poor control of iron levels

The probabilities for successful bone marrow transplant treatment in children under 16 receiving bone marrow from an HLA-matched donor are outlined below.

For children with no risk factors, there's a 95% chance of survival and a 90% chance that treatment will be successful.
For children with one or two risk factors, there's an 86% chance of survival and an 82% chance treatment will be successful.
For children with all three risk factors, there's a 79% chance of survival and a 58% chance treatment will be successful.

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 being 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's 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's a rich source of stem cells. Stem cells can be used instead of bone marrow because they're capable of producing healthy red blood cells.

The advantage of cord blood transfusions is that there's a lower chance of GvHD occurring and the HLA match doesn't need to be as accurate as that needed for a bone marrow transplant.

As cord blood transfusions are still a relatively new form of treatment for thalassaemia, definitive information about the survival and success rates is limited. However, one small study placed the success rate at 79% and there were no deaths.

If you're a mother of a child with thalassaemia and you conceive another child who doesn't have the condition, staff at your thalassaemia clinic will be able to discuss the possibility of cord donation with you.

Beta thalassaemia intermedia (BTI)

Treatment for beta thalassaemia intermedia (BTI) depends on the severity of the symptoms.

Some people will just require folic acid supplements to help the production of healthy red blood cells.

Others will need occasional blood transfusions and chelation therapy, while those with the most severe symptoms will require a treatment programme similar to the one used for people with beta thalassaemia major (BTM).

If you have BTI, you'll require regular check-ups so the progress of your condition can be monitored and any associated complications can be assessed.