Demographic, Clinical, Laboratory and Genetical Characteristics of Patients With Beta Thalassemia Intermedia
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
|Study Design:||Observational Model: Case-Only
Time Perspective: Prospective
DNA samples will be obtained to analyze the beta and alfa globin genes and the xmn1 polymorphism.
|Study Start Date:||October 2011|
|Estimated Study Completion Date:||December 2012|
|Estimated Primary Completion Date:||December 2012 (Final data collection date for primary outcome measure)|
Thalassemia Intermedia Patients
Patients with Beta Thalassemia Intermedia treated at the Pediatric Hematology Unit. The characterization of Thalassemia Intermedia was based on age at diagnosis (Older than 2 ys) and / or clinical characteristics that are milder than Thalassemia Major in patients homozygous for beta globin genes.
Genetic: Laboratory analysis.
The blood transfusions given to the patients are in accord to physician decision and not related to the study
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.
|Contact: Ariel Koren, MD||972-4-6495576 ext email@example.com|
|Pediatric Hematology Unit - Ha'Emek Medical Center|
|Afula, Israel, 18101|
|Principal Investigator:||Ariel Koren, MD||Ha'Emek Medical Center, Afula, Israel|