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 人类成人血红蛋白。 该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。 导致中风和脑血管疾病发展的因素 患有镰状细胞病的儿童尚不完全了解。 这项研究将 确定与血栓形成倾向相关的常见基因多态性是否 脑血管疾病发生的重要危险因素 这些儿童中风。 待研究的遗传多态性包括 MTHFR（亚甲基四氢叶酸还原酶）变体（C677T 突变）、ACE （血管紧张素转换酶）、ID（插入/删除）多态性、 凝血酶原 20210 G 突变为 A 突变，以及因子 V 基因突变（因子 V Leiden，Rsa I 多态性；位于称为 R2 的 V 因子基因的外显子 13 中， R3 单倍型和因子 V R485K 多态性）。 Hb SS 患者随机分为 STOP 研究以及 STOP II 中筛选的患者将提供基础 对于这项研究。

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.