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GEM - thalassaemia answer part 1

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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  • there are 2 types of thalassaemia, alpha (a) and beta (b) thalassaemia.
  • both are blood disorders which cause early profound anaemia. Adult haemoglobin (haemoglobin A) is a complex protein that consists of two alpha and two beta globin chains. Separate genes control the production of the alpha and beta globin chains.
  • alpha-thalassaemia is caused by mutations in the alpha globin gene which reduce the production of the alpha globin chains. One form of alpha thalassaemia can lead to profound anaemia in utero leading to stillbirth or early neonatal death.
  • beta-thalassaemia is caused by mutations in the beta globin gene which reduce or abolish production of the beta chain. This disease leads to severe anaemia requiring regular transfusions from 9 months of age

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