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Causes of Thalassaemia

Thalassaemia is an inherited disorder of the haemoglobin, (the substance in the blood that carries oxygen to the tissues). It is caused by an abnormal gene inherited from one or both your parents.

The haemoglobin chains , i.e. alpha or beta globin chain are affected. There is a decrease in the production of alpha globin chains in alpha thalassaemia due to a deletion (missing) or mutation (abnormal change) of one or more of the four alpha globin genes located on chromosome 16.

Beta thalassaemia is more varied due to the diversity of the mutations (abnormal changes) in the beta globin gene. Beta thalassemias are caused by mutations on chromosome 11.

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