What is thalassaemia?

Q: What is thalassaemia?


A: Thalassaemia is a genetic disorder of the blood which originated in the Mediterranean region. This disease is caused by the weakening and destruction of red blood cells due to mutant genes that affect how the body makes haemoglobin.

Q: What are some complications associated with thalassaemia?


A: Complications associated with thalassaemia can include pneumonia, iron overload, bone deformities and cardiovascular illness.

Q: How does thalassemia give protection against malaria?


A: Carriers of thalassemia have a selective survival advantage for carriers (known as heterozygous advantage) which helps keep the mutation in populations way above its mutation rate. This gives them protection against malaria, which is or was common in regions where this trait is common.

Q: Are there different versions of thalassaemia?


A: Yes, there are a number of different versions of thalassaemia each one caused by a mutation in a different position in the genome. It resembles another genetic disorder affecting haemoglobin, sickle-cell disease.

Q: Is it possible to cure patients with thalassaemia?


A: Yes, it is possible to cure patients with thalassaemia through bone marrow transplants from compatible donors who have an HLA-matched compatible donor.

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