Sickle-cell disease causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shyam Patel [2]
Overview
The cause of sickle cell disease is a mutation in the beta-globin chain of hemoglobin.
Causes
The cause of sickle cell disease is based on a point mutation at the 6th position of the beta-globin chain of hemoglobin, located on chromosome 11. The genetic mutation that occurs in the HBB gene results in replacement of glutamic acid for valine.[1] This amino acid substitution results in increased hydrophobic interactions, causing a sickled shape of red blood cells.[2] Sickle cell disease is characterized by autosomal recessive inheritance, so the direct cause is due to inheritance of 2 sickle cell alleles (one from each parent). Please see Pathophysiology for additional details.
References
- ↑ Saraf SL, Molokie RE, Nouraie M, Sable CA, Luchtman-Jones L, Ensing GJ; et al. (2014). "Differences in the clinical and genotypic presentation of sickle cell disease around the world". Paediatr Respir Rev. 15 (1): 4–12. doi:10.1016/j.prrv.2013.11.003. PMC 3944316. PMID 24361300.
- ↑ 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.