Screening and Identification of Genetic Modifiers Which Affecting the Phenotype Severity of Beta Thalassemia Patients
试验速览
- 阶段
- 不适用
- 入组人数
- 1,300
- 试验地点
- 1
- 主要终点
- Genetic variants which could influence the phenotype of beta thalassemia
研究概览
简要总结
β-thalassemia is one of the most common single gene disorder in Southern China. The phenotypic severity of beta thalassemia widely varies from mild to severe forms. Patients with the same beta thalassemia genotype show wide phenotypic variability that ranges from moderate to severe disease due to various genetic modifiers of disease severity. The aim of this study is to looking for the genetic factors which could affect the severity of beta thalassemia.
详细描述
The understanding of the genotype-phenotype correlation is a very important issue to the precise diagnosis of beta thalassemia. However, the genotype-phenotype correlation of Beta thalassemia is so complex that the pathogenesis of some patients remains uncertain and cannot be explained by known mechanisms. The study of the role of the genetic variants in modulating beta thalassemia phenotype could brought us considerable novel and interesting information in this area. We will collecting more than 1000 beta thalassemia patients , analyzing their clinical data and genome data, and association study will be conducted to screen the positive genetic variants which exert a significant effect on both the HbF levels and onset ages of beta thalassemia patients.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Diagnosed with β-thalassemia
排除标准
- •Iron Deficiency Anemia
结局指标
主要结局
Genetic variants which could influence the phenotype of beta thalassemia
时间窗: 1 year
Identified a group of single-nucleotide polymorphisms (SNPs) that contribute to β-thalassemia
次要结局
未报告次要终点