Sickle-cell disease causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:

Overview

Causes

The cause of sickle cell disease is based on a point mutation (glutamic acid to valine) at the 6th position of the beta-globin chain of hemoglobin. This amino acid substitution results in increased hydrophobic interactions, causing a sickled shape of red blood cells.[1]

References

  1. Ballas SK, Kesen MR, Goldberg MF, Lutty GA, Dampier C, Osunkwo I; et al. (2012). "Beyond the definitions of the phenotypic complications of sickle cell disease: an update on management". ScientificWorldJournal. 2012: 949535. doi:10.1100/2012/949535. PMC 3415156. PMID 22924029.

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