{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T15:36:43Z","timestamp":1762875403966},"reference-count":29,"publisher":"FapUNIFESP (SciELO)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2011,6]]},"abstract":"<jats:p>The aim of the present work was to examine possible genetic risk factors related to the occurrence of cerebrovascular disease (CVD) in Brazilian population, the frequency of \u03b2S-globin gene haplotypes and co-inheritance with \u03b1-thalassemia (-\u03b13.7kb) and single nucleotide polymorphism of methylenetetrahydrofolate reductase (MTHFR-C677T), Factor V Leiden (FV-G1691A) and prothrombin (PT-G20210A) genes in children from Rio de Janeiro. Ninety four children with sickle cell anemia (SCA) were included, 24 patients with cerebrovascular involvement and 70 patients without CVD as control group. The mean age of children at the time of the cerebrovascular event was similar to the control group. The frequency of -\u03b13.7kb thalassemia was similar in both groups (p=0.751). Children with Bantu\/Atypical \u03b2S-globin gene haplotype presented 15 times more chance (OR=15.4 CI 95% 2.9-81.6) of CVD than the other \u03b2S-globin gene haplotypes. The C677T polymorphism of MTHFR gene was similar in both groups (p=0.085). No mutation in the FV Leiden or PT genes was found. A large study seems necessary to establish the role of these genetic polymorphisms in Brazilian miscegenated population.<\/jats:p>","DOI":"10.1590\/s0004-282x2011000400004","type":"journal-article","created":{"date-parts":[[2011,7,7]],"date-time":"2011-07-07T16:34:21Z","timestamp":1310056461000},"page":"431-435","source":"Crossref","is-referenced-by-count":21,"title":["Genetic polymorphisms and cerebrovascular disease in children with sickle cell anemia from Rio de Janeiro, Brazil"],"prefix":"10.1590","volume":"69","author":[{"given":"Isaac Lima da Silva","family":"Filho","sequence":"first","affiliation":[{"name":"Funda\u00e7\u00e3o Oswaldo Cruz, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Claudia Celestino Bezerra","family":"Leite","sequence":"additional","affiliation":[{"name":"Funda\u00e7\u00e3o Oswaldo Cruz, Brazil; Instituto Estadual de Hematologia Arthur de Siqueira Cavalcante, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patr\u00edcia Gomes","family":"Moura","sequence":"additional","affiliation":[{"name":"Instituto Estadual de Hematologia Arthur de Siqueira Cavalcante, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgina Severo","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Universidade Federal Fluminense, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9a Cony","family":"Cavalcante","sequence":"additional","affiliation":[{"name":"Instituto Estadual de Hematologia Arthur de Siqueira Cavalcante, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fl\u00e1via Carolina Marques de","family":"Azevedo","sequence":"additional","affiliation":[{"name":"Instituto Estadual de Hematologia Arthur de Siqueira Cavalcante, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Jos\u00e9 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