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Sickle cell disease (SCD) is a group of inherited, multisystemic conditions with episodes of acute illness and progressive organ damage. It is characterized by the occurrence of the sickle mutation (1,2).
The term sickle cell disease (SCD) represents all of the different genotypes which presents with the characteristic clinical syndrome as a result of the presence of haemoglobin S while the term sickle cell anaemia (commonest type of SCD) is used specifically for patients with the homozygos disease (2).
When exposed to low oxygen tensions or acidaemia non-covalent polymerisation of HbS takes place, resulting in distortion and sickling of red cells.
Distorted red cells cannot negotiate capillaries, with two effects:
Patient information leaflets from UK National Screening Committee: