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Haemoglobinopathies

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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The haemoglobinopathies are characterized by abnormalities in the production of haemoglobin. They are common. WHO figures estimate that 5% of the world population are carriers for a haemoglobin disorder.

The haemoglobinopathies be subdivided into:

  • structural haemoglobin variants:
    • often due to single amino acid substitutions in either the alpha or beta globin chains
    • a common example is the Glu to Val mutation at position six of the beta globin chain in sickle cell disease

  • imbalanced globin chain synthesis - the thalassaemias

  • hereditary persistence of foetal haemoglobin:
    • genetic defects in the switch from foetal to adult haemoglobin synthesis
    • foetal haemoglobin persists into adult life

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