Thalassaemia

What is thalassaemia?

The haemoglobin protein, found in red blood cells, transports oxygen from the lungs to all parts of the body and gives blood its red colour. In thalassaemia, one of the haemoglobin chains is either missing, produced in greatly reduced amounts, or has an abnormal function. As a result, the haemoglobin in the red blood cells does not function properly.

There are two different types of thalassaemia based on which of the globlin chains are affected:

  • Alpha thalassaemia – one type can be fatal for baby and dangerous for mother during pregnancy, or
  • Beta thalassaemia major – a severe anaemia requiring life long treatment, including monthly blood transfusions.

In some cases, people can be a carrier for both types; however, they are no more severely affected than if they were a genetic carrier for one only.

Could I be a thalssaemia carrier?

Thalassaemia is a genetic condition. A person who carries an altered globin gene is called a ‘carrier’, and is healthy. It is important their doctor knows they are a carrier, and that both partners undergo blood tests to determine their carrier status. It is only if you are both carriers of certain globin gene alternations you have a risk of having a child affected by thalassaemia.

Beta thalassaemia trait is seen most commonly in people with the following ancestry:

  • Southeast Asian (including Vietnamese, Laotian, Thai, Singaporean, Filipino, Cambodian, Malaysian, Burmese and Indonesian)
  • Chinese
  • Indian
  • Mediterranean (including North African and particularly Italian and Greek)
  • Middle Eastern
  • African

Alpha thalassaemia trait is seen with increased frequency in the same ethnic groups. However, the communities in which alpha thalassaemia diseases are most
common include Southeast Asian and Chinese (particularly Southern Chinese).

Screening at Virtus Fertility Centre

Testing is undertaken using a blood sample. If your test identifies you as a thalassaemia carrier, a specialist will recommend that your partner should also be tested. Both parents need to be carriers of the thalassaemia mutation in order for the child to be affected.

In the event both partners are carriers a full explanation of the risk of having an affected child will be provided.

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