Demographic, Clinical, Laboratory and Genetical Characteristics of Patients With Beta Thalassemia Intermedia
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Purpose
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
| Condition | Intervention |
|---|---|
|
Thalassemia |
Genetic: Laboratory analysis. |
| Study Type: | Observational |
| 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.
| Estimated Enrollment: | 30 |
| 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) |
| Groups/Cohorts | Assigned Interventions |
|---|---|
|
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
|
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.
Eligibility| Ages Eligible for Study: | 1 Year to 40 Years |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Patients with beta Thalassemia Intermedia.
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.
Contacts and Locations| Contact: Ariel Koren, MD | 972-4-6495576 ext 5576 | koren_a@clalit.org.il |
| Israel | |
| Pediatric Hematology Unit - Ha'Emek Medical Center | |
| Afula, Israel, 18101 | |
| Principal Investigator: | Ariel Koren, MD | Ha'Emek Medical Center, Afula, Israel |
More Information
No publications provided
| Responsible Party: | Dr Koren Ariel, Head of Pediatric Dpt B and Pediatric Hematology Unit, HaEmek Medical Center, Israel |
| ClinicalTrials.gov Identifier: | NCT01443312 History of Changes |
| Other Study ID Numbers: | 0047-10-EMC |
| Study First Received: | September 27, 2011 |
| Last Updated: | September 28, 2011 |
| Health Authority: | Israel: Ministry of Health |
Keywords provided by HaEmek Medical Center, Israel:
|
Beta globin gene Alfa globin gene xmn1 polymorphism |
Additional relevant MeSH terms:
|
Beta-Thalassemia Thalassemia Anemia, Hemolytic, Congenital Anemia, Hemolytic |
Anemia Hematologic Diseases Hemoglobinopathies Genetic Diseases, Inborn |
ClinicalTrials.gov processed this record on May 16, 2013