What is thalassaemia?

Thalassaemia is an inherited genetic disorder that affects the blood and causes lifelong anaemia.

People with thalassaemia do not produce enough healthy haemoglobin. Haemoglobin is a protein found in red blood cells that carries oxygen from the lungs to the rest of the body.

People born with thalassaemia cannot move oxygen around the body properly. Depending on the type of thalassaemia they have, they may need regular blood transfusions for life.

What causes thalassaemia?

Thalassaemia is caused by inheriting a gene mutation (change in the normal DNA) from one or both parents. The gene mutation makes the body lose red blood cells more quickly than normal, resulting in less healthy haemoglobin to carry oxygen around the body.

There are different types of thalassaemia. The type someone has depends on which gene mutation they inherit.

Types of thalassemia

Alpha thalassaemia

This is caused by a problem in at least one of 4 genes called alpha globin genes.

• People who inherit 1 or 2 faulty genes (called alpha thalassaemia trait) will not have any symptoms, but they are carriers, meaning they can pass the disorder onto their children.
• People with 3 faulty genes (called Haemoglobin H disease) will have symptoms of thalassaemia.
• Babies who inherit 4 faulty genes (called alpha thalassaemia major) are usually very sick and die during pregnancy or soon after they are born.

Alpha thalassaemia is more common in people of Southeast Asian, Southern Chinese, Middle Eastern, Indian, African or Mediterranean descent.

Beta thalassaemia

This is the most common type of thalassaemia. It is caused by mutations in 1 or 2 genes called beta globin genes.

• People with just 1 faulty gene (called beta thalassaemia minor or beta thalassaemia trait) will not have any symptoms, but they are carriers and can pass thalassaemia onto their children.
• People with 2 faulty genes (called beta thalassaemia major) will have symptoms of thalassaemia. Their symptoms may be mild or severe, depending on which gene mutation they have.

Beta thalassaemia usually affects people of Mediterranean, Asian or African descent.

What are the symptoms of thalassaemia?

The main symptom of thalassaemia is anaemia, which can lead to:

• feeling tired and weak
• shortness of breath
• pale skin
• a fast heartbeat

Depending on the type of thalassaemia, other symptoms may include:

• slow growth during childhood
• yellow colouring of your skin and eyes (jaundice)
• an enlarged spleen
• changes in your bones

If you have alpha or beta thalassaemia trait, you won’t usually have any symptoms, but you might be diagnosed on a routine blood test.

How is thalassaemia diagnosed?

Thalassaemia can be diagnosed with blood tests. You may also have genetic tests to find out what type of thalassaemia you have.

If you have alpha or beta thalassaemia trait, you might find out by chance, when a blood test done for other reasons shows changes in your red blood cells.

Alpha thalassaemia major can be diagnosed during pregnancy, if an ultrasound shows unusual swelling in the developing baby’s body.

Your doctor might suggest a blood test to check for thalassaemia if:

• you are pregnant or planning a pregnancy
• you have a relative with thalassaemia
• you or your relatives have unexplained anaemia (low haemoglobin)
• your family came from a region where thalassaemia is common

Unborn babies can also be tested for thalassaemia.

How is thalassaemia treated?

Not everyone with thalassemia needs treatment.

People with severe thalassaemia may need blood transfusions every 3 to 4 weeks. People with less severe thalassaemia might need blood transfusions only occasionally.

Blood transfusions can cause a build-up of iron in the body, which can lead to heart and liver damage. People with frequent blood transfusions can take a medicine that helps bring the iron back to a safe level (called iron chelation).

If you have very severe symptoms, your doctor may recommend a bone marrow transplant. This can cure thalassaemia, but it has high risks. Speak to your doctor about whether a bone marrow transplant is right for you.

What are the complications of thalassaemia?

People with thalassaemia can develop other problems including:

• an enlarged spleen, which may sometimes need to be removed
• serious infections
• growth problems
• hormonal problems, such as hypothyroidism
• bone problems and osteoporosis
• dental disease

A build-up of iron as a result of blood transfusions can cause:

• heart problems, such as heart failure or arrythmias
• liver problems
• diabetes
• delayed puberty
• fertility problems

Living with thalassaemia

Thalassemia is a lifelong medical condition, but you can live a relatively normal life with ongoing medical treatment. If you have thalassaemia, it is important to attend all your medical appointments and to have blood transfusions when you need them.

You may need to take medicines to reduce the iron levels in your blood and to treat any complications that may develop.

Here are some other things you can do to stay healthy while living with thalassaemia:

• Reduce your chance of infections by washing your hands often and avoiding people who are sick. See your doctor straight away if you have a fever.
• Take care of yourself by eating healthily and maintaining a healthy weight. Include plenty of calcium in your diet.
• Stay physically active.
• Avoid alcohol and smoking.
• Take any supplements that your doctor recommends such as vitamin D, calcium, folic acid and vitamin C.
• Look after your teeth and see your dentist regularly.

Can thalassaemia be prevented?

If someone is diagnosed with thalassaemia, their close relatives (parents, children, brothers and sisters) may also be offered genetic testing to see if they have the gene mutation. It is a simple blood test that is free and can be arranged by your doctor.

You might want to know whether you carry the gene so you can make informed choices about having a baby in future. A child is only at risk of having thalassaemia if both parents carry a thalassaemia mutation. The risk depends on the type of gene mutation each parent has and how many genes are affected. You can talk to a genetic counsellor to find out more about your risk and your options to avoid having a child with thalassaemia.

If you and your partner carry the thalassaemia gene and are planning a pregnancy, you may decide to:

• have prenatal testing (a genetic test done during pregnancy) to see whether the pregnancy is affected
• use in vitro fertilisation (IVF), with genetic screening of the embryo before it is implanted (preimplantation genetic diagnosis or PGD)
• learn how to look out for symptoms of thalassaemia in your child

This Centre for Genetics Education fact sheet has more information for thalassaemia carriers.

Resources and support

For information or support, contact:

• Thalassaemia and Sickle Cell Australia.
• Your local genetic service through your community health centre, public hospital or health department.

Do you prefer to read in languages other than English?

Thalassaemia and Sickle Cell Australia also offer their fact sheets on Beta Thalassaemia in various languages.