Sickle-cell disease causes: Difference between revisions
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==Causes== | ==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.<ref name="pmid22924029">{{cite journal| author=Ballas SK, Kesen MR, Goldberg MF, Lutty GA, Dampier C, Osunkwo I et al.| title=Beyond the definitions of the phenotypic complications of sickle cell disease: an update on management. | journal=ScientificWorldJournal | year= 2012 | volume= 2012 | issue= | pages= 949535 | pmid=22924029 | doi=10.1100/2012/949535 | pmc=3415156 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22924029 }} </ref> | |||
==References== | ==References== | ||
Revision as of 23:18, 29 June 2016
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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
- ↑ 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.