Sickle Cell Anaemia

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Sickle Cell Anaemia

Ronald L Nagel, Albert Einstein College of Medicine, Bronx, New York, USA

Published online: January 2006

DOI: 10.1038/npg.els.0001454

Full Article on Wiley Online Library

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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.

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Further Reading
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Article Title:	Sickle Cell Anaemia
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	Figure 1. Deoxygenated red cell containing over 90% HbS and observed by Nomarski optics. Notice that the red cells are deformed, some with a ‘sickle’ shape; but more frequently with multiple protuberances. Each one of these contains a fascicle of sickle fibres, the product of the polymerization of deoxyHbS.
	Figure 2. Haplotypes of the -gene cluster. The -gene cluster corresponds to a 60 kb stretch of DNA that contains the -gene and other -like globin genes. Depicted by arrows are also the location of the sites recognized by several endonuclease enzymes. These sites are polymorphic in human populations, which means that they can be present (+) or absent (–) in different individuals. Haplotypes corresponds to the set of + and – sites. Although about 20 different ones are found in different ethnic groups, only 5–7 are frequent. The ^S gene is linked over 90% of the time to a haplotype present in the specific geographical area, depicted as Senegal, Benin, Bantu or Arab-India. The remaining are very likely to have arisen by recombination in a ‘hot site’ around the gene.
	Figure 3. Kidney from a transgenic sickle mouse, in which the medulla exhibits areas of vascular obstruction.

Sickle Cell Anaemia

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