Stroke In Sickle Cell Anemia Patients: A Need For Multidisciplinary Approaches.

dc.creatorMenaa, Farid
dc.date2013-Aug
dc.date2015-11-27T13:31:48Z
dc.date2015-11-27T13:31:48Z
dc.date.accessioned2018-03-29T01:17:55Z
dc.date.available2018-03-29T01:17:55Z
dc.identifierAtherosclerosis. v. 229, n. 2, p. 496-503, 2013-Aug.
dc.identifier1879-1484
dc.identifier10.1016/j.atherosclerosis.2013.05.006
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/23746538
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/200666
dc.identifier23746538
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1300899
dc.descriptionSickle cell anemia (SCA) is an autosomal recessive disorder, with Mendelian inheritance pattern, caused by a missense mutation in the β-polypeptide chain of the hemoglobin B. SCA preferentially affects populations in countries where malaria was/is present (e.g. Africa, USA, Brazil). Thereby, in USA, the incidence of SCA is relatively high, around 1/500, and the prevalence is about 1/1000. In Brazil, SCA represents a major public health problem with an incidence ranging from 1/2000 to 1/600 depending on the regions. Homozygotic patients present more severe medical conditions and reduced life expectancy than heterozygous individuals who generally are asymptomatic. Eventually, this life-threatening disease displays a complex etiology owing to heterogeneous phenotypes and clinical outcomes, subsequently affecting the management of the patients. One of the most critical complications associated with SCA is stroke, a leading neurologic cause of death and disability. About 24% of SCA patients have a stroke by the age of 45 and 11% by the age of 20. From the general population, twin and familial aggregation studies as well as genome-wide association studies (GWAS), mostly in pediatric populations with ischemic stroke, showed that the risk of stroke has a substantial genetic component. Nevertheless, to fully characterize genomic contributors of stroke and permit reliable personalized medicine, multidisciplinary studies incorporating knowledge from clinical medicine, epidemiology, genetics, and molecular biology, are required. In this manuscript, stroke in SCA patients is extensively reviewed with emphasis to the US and Brazilian populations. Recent advances in genomics analysis of stroke in SCA patients are highlighted.
dc.description229
dc.description496-503
dc.languageeng
dc.relationAtherosclerosis
dc.relationAtherosclerosis
dc.rightsfechado
dc.rightsCopyright © 2013 Elsevier Ireland Ltd. All rights reserved.
dc.sourcePubMed
dc.subjectAnemia, Sickle Cell
dc.subjectGenome-wide Association Study
dc.subjectHemoglobins
dc.subjectHumans
dc.subjectIncidence
dc.subjectInterdisciplinary Communication
dc.subjectPrevalence
dc.subjectRisk Factors
dc.subjectStroke
dc.subjectCopy-number Variations
dc.subjectGenome-wide Association Studies
dc.subjectPersonalized And Translational Medicine
dc.subjectSickle Cell Anemia
dc.subjectSingle Nucleotide Polymorphisms
dc.subjectStroke
dc.titleStroke In Sickle Cell Anemia Patients: A Need For Multidisciplinary Approaches.
dc.typeArtículos de revistas


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