Sickle Cell Anaemia
Published Online: 27 JAN 2006
Copyright © 2001 John Wiley & Sons, Ltd. All rights reserved.
How to Cite
Nagel, R. L. 2006. Sickle Cell Anaemia. eLS. .
- Published Online: 27 JAN 2006
Sickle cell anaemia is a genetic disease, whose indispensable feature is the presence of a mutation in the beta globin gene that specifies one of the chains of haemoglobin. This mutation endows the haemoglobin with a new property: the capacity of polymerizing when deoxygenated. This mutation has several untoward consequences: haemolytic anaemia, acute chest syndrome, stroke, renal insufficiency, leg ulcers, osteonecrosis, etc. Lifespan is compromised and the only accepted treatment is hydroxyurea, which is capable of ameliorating the phenotype and extending the life of the patient.