Thalassaemia

28 August 2023

What is Thalassaemia?

Thalassaemia is a genetic blood disorder which is caused when blood doesn’t produce enough haemoglobin. It’s inherited from parents to children, and the outcomes can sometimes be deadly.

Haemoglobin is part of the red blood cells which carry oxygen around the body and to the organs. If these levels are low, you can be left feeling weak, tired, and nauseous.

However, some sufferers may be completely asymptomatic (have no symptoms), some may have moderate anaemia – possibly requiring blood transfusions, while others will be transfusion dependent.

Thalassaemia left untreated can lead to organ failure and cause death.

How do I know if I have it?

Thalassaemia requires a simple blood test, speak to your doctor to request a referral.

This blood will be used to run a Complete Blood Examination, Iron Studies and Haemoglobin Variant Analysis. All three tests will be reviewed to determine thalassaemic status.

What about family planning?

Genetic carrier screening may be required to identify if you have a gene which may pass to your offspring.

Molecular testing can confirm if you have alpha thalassaemia or some rare beta thalassaemia traits.

Alpha and beta haemoglobin chains are the two building blocks of adult haemoglobin, the part which isn’t being made will determine which type of thalassaemia you have. For example, if you’re low in alpha – you have Alpha Thalassaemia.

Some studies have shown that country of genetic origin plays a role in the likelihood of thalassaemia. Traits are often common in people of Mediterranean heritage, and also in people from Asia, Africa, and the Middle East. During carrier testing, we will ask you complete a genetic ancestry questionnaire to help us interpret the results.

I have Thalassaemia, what next?

Depending on the severity of the condition, you may require long term management from a Haematologist. This may include monitoring the symptoms or receiving life-long blood transfusions.

Chat to your doctor about the potential risk of a more severe thalassaemia inheritance in your child if you are pregnant or planning a family. In these situations, partner screening is recommended.

SA Pathology’s team of multi-disciplinary consultants and scientists meet fortnightly to discuss and provide formal reproductive risk assessments for couples from a thalassaemic perspective.

For detailed information about pathology tests and specific conditions visit pathologytestsexplained.org.au

Time for your next blood test? Find a collection centre closest to you.

To book a specialised test call us on 8222 3000.