haemoglobinopathies
Last reviewed 01/2022
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