Genetic polymorphisms and cerebrovascular disease in children with sickle cell anemia from Rio de Janeiro, Brazil

Arquivos de Neuro-Psiquiatria

Isaac Lima Da Silva Filho²  Ana Claudia Celestino Bezerra Leite¹  Patrícia Gomes Moura¹  Georgina Severo Ribeiro¹  Andréa Cony Cavalcante¹  Flávia Carolina Marques De Azevedo¹  Maria José De Andrada-serpa¹ 

[1] ,Fundação Oswaldo Cruz Instituto de Pesquisa Clínica Evandro Chagas Rio de Janeiro RJ ,Brazil

关键词: sickle cell anemia;    cerebrovascular disease;    alpha-thalassemia;    beta-globin haplotypes;    genetic polymorphism;    anemia falciforme;    acidente vascular cerebral;    talassemia alfa;    globinas beta;    polimorfismo genético;   

DOI  :  10.1590/S0004-282X2011000400004

来源: SciELO

【 摘 要 】

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 βS-globin gene haplotypes and co-inheritance with α-thalassemia (-α3.7kb) 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 -α3.7kb thalassemia was similar in both groups (p=0.751). Children with Bantu/Atypical βS-globin gene haplotype presented 15 times more chance (OR=15.4 CI 95% 2.9-81.6) of CVD than the other βS-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.

【 授权许可】

CC BY   
 All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License