Thalassemia
Conditions
Keywords
Beta globin gene, Alfa globin gene, xmn1 polymorphism
Brief summary
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
Detailed description
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.
Interventions
GENETICLaboratory analysis.
The blood transfusions given to the patients are in accord to physician decision and not related to the study
Sponsors
HaEmek Medical Center, Israel
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
1 Years to 40 Years
Healthy volunteers
No
Inclusion criteria
-All patients treated at the Pediatric Hematology Unit
Exclusion criteria
* 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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| The characteristics of patients with thalassemia intermedia | One year | Observational study that analyzed the characteristics of thalassemia intermedia patients |
Countries
Israel
Outcome results
None listed