Summary

• Thalassaemia is an inherited genetic disorder that affects the blood and causes lifelong anaemia.
• People with thalassaemia do not produce enough healthy haemoglobin, which carries oxygen around the body.
• There are many different types of genetic mutations that cause thalassemia and symptoms depend on which mutation a person has.
• Thalassemia is diagnosed with blood tests and a genetic test.
• People with thalassaemia can usually live a relatively normal life with regular treatment.

These key facts are from healthdirect.gov.au (accessed 29 Jan 2025). Visit the healthdirect website for more information about thalassaemia.

Relevant Tests

If your doctor suspects you have thalassaemia, they may request one or more tests.

If you are diagnosed with thalassaemia, some of these tests will be used to monitor and manage your condition.

Find information about specific tests:

• Full blood count
• Blood film
• Iron studies