Genetic Risk Factors for CVA in Children with Hb SS

描述（由申请人提供）： 镰状细胞性贫血是一种影响β珠蛋白链的单基因疾病 成人血红蛋白 这种疾病的不同表型表现 导致了对导致这种多样性的遗传因素的研究。 脑卒中发病因素与脑血管病的发展 儿童镰状细胞病尚未得到充分了解。 本研究将 确定与血栓形成倾向相关的常见遗传多态性是否 血管疾病发展的重要风险因素， 这些孩子的中风。 待研究的遗传多态性包括 MTHFR（亚甲基四氢叶酸还原酶）变体（C677 T突变），ACE （血管紧张素转换酶），ID（插入/缺失）多态性， 凝血酶原20210 G至A突变，以及因子V基因（因子 V Leiden，Rsa I多态性;在称为R2的因子V基因的外显子13中， R3单倍型和因子V R485 K多态性）。 Hb SS患者随机分配至 STOP研究以及STOP II中筛选的患者将为 for this study研究.

DESCRIPTION (provided by applicant): Sickle cell anemia is a single gene disorder affecting the beta globin chain of human adult hemoglobin. Varying phenotypic expressions of this disease have led to studies of genetic factors contributing to this diversity. Factors that lead to stroke and the development of cerebrovascular disease in children with sickle cell disease are not fully understood. This study will determine if common genetic polymorphisms associated with thrombophilia are important risk factors for the development of cerebrobvascular disease and stroke in these children. The genetic polymorphisms to be studied include MTHFR (methylenetetrahydrofolate reductase) variant (C677T mutation), ACE (angiotensin converting enzyme), ID (insertion/deletion) polymorphism, prothrombin 20210 G to A mutation, and mutations in the Factor V gene (Factor V Leiden, Rsa I polymorphisms; in exon 13 of the factor V gene known as R2 and R3 haplotypes, and Factor V R485K polymorphism). Hb SS patients randomized to the STOP study as well as patients screened in STOP II will provide the basis for this study.