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

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01443312
First Posted: September 29, 2011
Last Update Posted: September 1, 2015
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by (Responsible Party):
Dr Koren Ariel, HaEmek Medical Center, Israel
  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 Dr Koren Ariel, HaEmek Medical Center, Israel:

Primary Outcome Measures:
  • The characteristics of patients with thalassemia intermedia [ Time Frame: One year ]
    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.

Enrollment: 28
Study Start Date: October 2011
Study Completion Date: December 2014
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

Information from the National Library of Medicine

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Ages Eligible for Study:   1 Year to 40 Years   (Child, Adult)
Sexes Eligible for Study:   All
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
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01443312


Locations
Israel
Pediatric Hematology Unit - Ha'Emek Medical Center
Afula, Israel, 18101
Sponsors and Collaborators
HaEmek Medical Center, Israel
Investigators
Principal Investigator: Ariel Koren, MD Ha'Emek Medical Center, Afula, Israel
  More Information

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
First Submitted: September 27, 2011
First Posted: September 29, 2011
Last Update Posted: September 1, 2015
Last Verified: August 2015

Keywords provided by Dr Koren Ariel, HaEmek Medical Center, Israel:
Beta globin gene
Alfa globin gene
xmn1 polymorphism

Additional relevant MeSH terms:
Thalassemia
Anemia, Hemolytic, Congenital
Anemia, Hemolytic
Anemia
Hematologic Diseases
Hemoglobinopathies
Genetic Diseases, Inborn