Sickle-cell disease causes: Difference between revisions
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==Overview== | ==Overview== | ||
The cause of sickle cell disease is a mutation in the beta-globin chain of hemoglobin. | |||
==Causes== | ==Causes== | ||
The cause of sickle cell disease is based on a point mutation at the 6th position of the beta-globin chain of hemoglobin. The genetic mutation that occurs in the HBB gene results in replacement of glutamic acid for valine.<ref name="pmid24361300">{{cite journal| author=Saraf SL, Molokie RE, Nouraie M, Sable CA, Luchtman-Jones L, Ensing GJ et al.| title=Differences in the clinical and genotypic presentation of sickle cell disease around the world. | journal=Paediatr Respir Rev | year= 2014 | volume= 15 | issue= 1 | pages= 4-12 | pmid=24361300 | doi=10.1016/j.prrv.2013.11.003 | pmc=3944316 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24361300 }} </ref> 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> | 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.<ref name="pmid24361300">{{cite journal| author=Saraf SL, Molokie RE, Nouraie M, Sable CA, Luchtman-Jones L, Ensing GJ et al.| title=Differences in the clinical and genotypic presentation of sickle cell disease around the world. | journal=Paediatr Respir Rev | year= 2014 | volume= 15 | issue= 1 | pages= 4-12 | pmid=24361300 | doi=10.1016/j.prrv.2013.11.003 | pmc=3944316 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24361300 }} </ref> 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> 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== | ==References== |
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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.