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Sickle Cell Anaemia

  1. Ronald L Nagel

Published Online: 27 JAN 2006

DOI: 10.1038/npg.els.0001454

eLS

eLS

How to Cite

Nagel, R. L. 2006. Sickle Cell Anaemia. eLS. .

Author Information

  1. Albert Einstein College of Medicine, Bronx, New York, USA

Publication History

  1. Published Online: 27 JAN 2006

Abstract

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.