Demographic, Clinical, Laboratory and Genetical Characteristics of Patients With Beta Thalassemia Intermedia

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2013 by HaEmek Medical Center, Israel
Sponsor:
Information provided by (Responsible Party):
Dr Koren Ariel, HaEmek Medical Center, Israel
ClinicalTrials.gov Identifier:
NCT01443312
First received: September 27, 2011
Last updated: July 16, 2013
Last verified: July 2013
  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

Resource links provided by NLM:


Further study details as provided by HaEmek Medical Center, Israel:

Primary Outcome Measures:
  • The characteristics of patients with thalassemia intermedia [ Time Frame: One year ] [ Designated as safety issue: No ]
    Observational study that analyzed the characteristics of thalassemia intermedia patients


Biospecimen Retention:   Samples With DNA

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 2014
Estimated Primary Completion Date: December 2014 (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
Study Population

Patients with beta Thalassemia Intermedia.

Criteria

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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01443312

Contacts
Contact: Ariel Koren, MD 972-4-6495576 ext 5576 koren_a@clalit.org.il

Locations
Israel
Pediatric Hematology Unit - Ha'Emek Medical Center Recruiting
Afula, Israel, 18101
Contact: Ariel Koren, MD    972-4-6495576 ext 5576    koren_a@clalit.org.il   
Principal Investigator: Ariel Koren, MD         
Sub-Investigator: Carina Levin, MD         
Sub-Investigator: Batia Rones, Student         
Sponsors and Collaborators
HaEmek Medical Center, Israel
Investigators
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: July 16, 2013
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
Anemia, Hemolytic
Anemia, Hemolytic, Congenital
Genetic Diseases, Inborn
Hematologic Diseases
Hemoglobinopathies

ClinicalTrials.gov processed this record on October 20, 2014