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Thalassaemia is an inherited blood disease.

Thalassaemia is an inherited blood disease.
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3-minute read

What is thalassaemia?

Thalassaemia is an inherited genetic disorder that affects the blood. 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.

Thalassaemia can be mild (often called thalassaemia minor) or it can be severe. Thalassaemia which causes serious problems can be called thalassaemia major, Cooley's anaemia or Mediterranean anaemia, depending on the genetic defect.

Thalassaemia is more common in people from Southeast and Central Asia, the Mediterranean, the Middle East, India and North Africa.

What are the symptoms of thalassaemia?

People with thalassaemia can:

  • feel tired, weak 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 slight deformity of their facial bones

The symptoms can show up in babies and small children if the condition is severe.

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 iron)
  • your family came from a region where thalassaemia is common

Unborn babies can also be tested for thalassaemia.

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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.

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.

If you carry the thalassaemia gene and are thinking of having a child, you may decide to have genetic testing. Your child is only at risk of having thalassaemia if both you and your partner are carriers.

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Last reviewed: February 2019

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