Sickle cell anemia

Definition:

Sickle cell anaemia (SCA) is a recessive genetic disease caused by a single-point mutation in the beta globin gene in codon 6 (Glu6Val) that specifies one of the chains of haemoglobin. The disease is characterized by a chronic haemolytic anaemia with the sickle cells which show abnormal morphology due to the damage of the membrane skeletons and agglutinate under deoxygenated conditions.

References:

[1]. H F Bunn, et al. Pathogenesis and treatment of sickle cell disease. N Engl J Med. 1997 Sep 11;337(11):762-9. [Content Brief]

[2]. Martin H Steinberg, et al. Pathophysiologically based drug treatment of sickle cell disease. Trends Pharmacol Sci. 2006 Apr;27(4):204-10. [Content Brief]

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