Demographic, Clinical, Laboratory and Genetical Characteristics of Patients With Beta Thalassemia Intermedia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 28
- 试验地点
- 1
- 主要终点
- The characteristics of patients with thalassemia intermedia
研究概览
简要总结
The definition of Thalassemia Intermedia is not generally accepted and the specific clinical and laboratory characteristics varies between patients. Some patients are blood transfusion dependent and others are occasionally transfused. Also the mutations in the beta globin gene are diverse. Another mutations including mutations in the alfa globin gene and in the xmn1 gene can affect the clinical course of this disease. The purpose of this study is to summarize the characteristics of patients with Thalassemia Intermedia treated at the Pediatric Hematology Unit at the HaEmek Medical Center in Israel
详细描述
The characteristics that will be recorded from the medical files include: demographic data, included gender and ethnic origin, family history, age at diagnosis, number and frequency of blood transfusions including age of first transfusion and physical examination findings.
The laboratory data included iron metabolism parameters, mutation in the alfa and beta gene and the presence of the xmn1 polymorphism.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 1 Year 至 40 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •All patients treated at the Pediatric Hematology Unit
排除标准
- •Not enough medical records.
- •Patients who refuse to give consent to perform genetic studies will be included in the study but only the retrospective clinical data will be recorded.
结局指标
主要结局
The characteristics of patients with thalassemia intermedia
时间窗: One year
Observational study that analyzed the characteristics of thalassemia intermedia patients
次要结局
未报告次要终点
研究者
Dr Koren Ariel
Head of Pediatric Dpt B and Pediatric Hematology Unit
HaEmek Medical Center, Israel