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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, which makes their blood cells small and pale. 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 to stay alive.

What causes thalassemia?

Thalassaemia is caused when someone inherits gene mutations (‘spelling errors’ in the DNA in genes) from one or both parents. These gene mutations make the body lose red blood cells more quickly than normal and result in less haemoglobin.

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

Alpha thalassaemia: This is caused by a problem in 1 or more of 4 genes called alpha globin genes.

People who inherit just 1 gene may not have any symptoms, but they can still pass the disorder onto their children. 2 genes cause mild symptoms, 3 genes (called Haemoglobin H disease) cause more severe symptoms, and babies who inherit 4 genes (called alpha thalassaemia major or hydrops fetalis) are usually very sick and do not live for long after they are born.

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

Beta thalassaemia: This is caused by mutations in 1 or 2 genes called beta globin genes.

There are hundreds of possible mutations and symptoms depend on which mutation a person has. People with just 1 faulty gene usually have minimal symptoms but they can pass thalassaemia onto their children. People with 2 faulty genes (called thalassaemia major) often have life-threatening symptoms. Some people with 2 abnormal genes may still have milder symptoms and only need occasional blood transfusions.

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

What are the symptoms of thalassaemia?

People with thalassaemia can:

• feel tired, weak, dizzy and short of breath
• grow more slowly than usual as children
• be pale or have yellow skin colouring (jaundice)
• have dark urine
• have a swollen belly
• have a slight deformity of their facial bones

If it’s not treated, thalassaemia can lead to heart failure and infections.

The symptoms can appear in babies and small children if the condition is severe, usually in the first 2 years of life.

How is thalassaemia diagnosed?

Some people find out they have thalassaemia because they are unwell. Their doctor talks to them, examines them and carries out blood tests. They may also have genetic tests.

Other people find out they have thalassaemia by chance when a blood test done for other reasons shows something unusual.

There are times when doctors suggest a blood test to check for thalassaemia. This includes if:

• you are planning to have a child
• 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?

If you have thalassaemia, you might or might not need any treatment. It depends on how severe your symptoms are.

People with severe thalassaemia may need blood transfusions every 3 to 4 weeks. People with less severe thalassaemia might need blood transfusions only occasionally, or not at all.

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).

A few people have so serious a problem that they are advised to have a transplantation of stem cells or bone marrow from a healthy donor. This can help, but it has risks and is only rarely needed.

Living with thalassaemia

If you have thalassaemia, it is important to attend all your medical appointments and to have blood transfusions when you need them. You will need to prevent infections by washing your hands often and avoiding people with colds or the flu.

Take care of yourself by eating healthily.

What are the complications of thalassaemia?

People with thalassaemia can develop other problems including:

• enlarged spleen
• blood infections
• bone problems such as deformities in the face or skull, or osteoporosis
• damage to the heart, liver or hormonal system, caused by too much iron in the blood

Can thalassaemia be prevented?

When 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 done 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 are carriers. If both parents are carriers, there is a 1 in 4 chance their child will have thalassaemia. There is a 1 in 2 chance they will be a carrier.

If you carry the thalassaemia gene and are thinking of having a child, you and your partner may decide to:

• have prenatal testing (a genetic test done during pregnancy) to see whether the child is affected
• think about your options for having a child. For example, you may decide to have a child through IVF, and have genetic screening of the embryo before it is implanted
• look out for symptoms of thalassaemia in your child

This Centre for Genetics Education fact sheet has more information about genetic screening in pregnancy for thalassaemia.

Resources and support

For further information or support, contact us at coordinator@thalnsw.org.au or your community health centre, thalassaemia treatment centres, public hospital or health department.

Useful links:

• Thalassaemia and Sickle Cell Australia
• Thalassaemia International Federation
• Healthdirect Australia

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Sources:

Thalassaemia and Sickle Cell Society of Australia (Factsheets), Department of Health (Pregnancy Care Guidelines, Haemoglobin disorders), Lab Tests Online (Thalassaemia), Elsevier Patient Information (Thalassemia), Centre for Genetics Education (Thalassaemia)

What is sickle cell anaemia?

Sickle cell anaemia is one of a group of disorders known as sickle cell disease.

Sickle cell disease

Sickle cell disease is a group of blood disorders that affect your haemoglobin. Haemoglobin is in your red blood cells. It’s responsible for carrying oxygen around your body.

Sickle cell disease is an inherited condition. If you have sickle cell anaemia, both of your parents must have given you a faulty gene.

Your parents may not:

• have sickle cell anaemia
• know that they carry the gene for sickle cell anaemia

The genes for sickle cell disease are most often found in people with any of the following ethnic backgrounds:

• African
• Middle Eastern
• Southern European
• Indian
• Pakistani
• South American
• Caribbean

What are the symptoms of sickle cell anaemia?

People with sickle cell anaemia may:

• be tired
• have pale skin

Children with sickle cell anaemia may have delayed growth and development.

The sickle (crescent) shape of the red blood cells can cause them to get caught in your small blood vessels. This can cause:

• pain in your hands and feet
• bone and chest pain
• bacterial infections
• organ damage

What causes sickle cell anaemia?

Usually, your red blood cells are round. This means that they can bend to go through small blood vessels and pop back into their normal shape.

In people with sickle cell anaemia, the red blood cells form a crescent, or sickle, shape.

Usually, red blood cells live for 120 days before being replaced. But sickle cells last only 10 to 20 days. This causes a shortage of red blood cells (anaemia).

How is sickle cell anaemia diagnosed?

Sickle cell anaemia is diagnosed by blood tests. Special blood tests can tell if you carry the sickle cell gene.

If you carry the gene for sickle cell disease, your doctor may suggest screening your immediate family. That is your: parents, children, brothers and sisters. This is because they have a 1 in 2 chance (50%) of carrying the sickle cell disease gene.

How is sickle cell anaemia treated?

Your doctor might give you medicines to help reduce your symptoms. There is strong evidence for the use of hydroxyurea to treat sickle cell disease.

Blood transfusions can be used to treat the complications of sickle cell disease.

Bone marrow transplants can cure sickle cell disease. However, there are some problems with this treatment option:

• lack of suitable bone marrow donors
• transplant rejection
• long term problems with your heart, kidneys and eyes

Some researchers are now looking at gene therapy to treat sickle cell disease.

You can use some self-management strategies to reduce the effects of sickle cell disease. These include:

• drinking plenty of fluids
• eating a healthy diet
• preventing infections by being fully vaccinated and sometimes taking daily antibiotics if needed
• avoiding extreme temperatures
• avoiding over-activity
• using pain relief medicines (for example, paracetamol or ibuprofen) to manage your pain

Can sickle cell anaemia be prevented?

Sickle cell disease is inherited so can’t be prevented.

Sickle cell disease isn’t contagious (you can’t catch it).

Living with sickle cell anaemia

It’s important to try to and stay as healthy as possible. Take steps to:

• manage your pain
• avoid infections

If you want to get pregnant, you may want to think about genetic testing or genetic counselling.

If you need surgery, it’s important to tell your surgeon and anaesthetist about your sickle cell anaemia. General anaesthetics can cause problems, such as pain episodes.