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

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ClinicalTrials.gov Identifier: NCT01443312
Recruitment Status : Completed
First Posted : September 29, 2011
Last Update Posted : November 1, 2019
Sponsor:
Information provided by (Responsible Party):
Dr Koren Ariel, HaEmek Medical Center, Israel

Study Description
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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

Condition or disease Intervention/treatment
Thalassemia Genetic: Laboratory analysis.

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.

Study Design
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Study Type : Observational
Actual Enrollment : 28 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Demographic, Clinical, Laboratory and Genetical Characteristics of Patients With Beta Thalassemia Intermedia
Study Start Date : October 2011
Actual Primary Completion Date : December 2014
Actual Study Completion Date : December 2014

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Thalassemia

Groups and Cohorts
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Group/Cohort Intervention/treatment
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


Outcome Measures
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Primary Outcome Measures :
  1. 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.

Eligibility Criteria
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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
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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
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Israel
Pediatric Hematology Unit - Ha'Emek Medical Center
Afula, Israel, 18101
Sponsors and Collaborators
HaEmek Medical Center, Israel
Investigators
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Principal Investigator: Ariel Koren, MD Ha'Emek Medical Center, Afula, Israel
More Information
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Responsible Party: Dr Koren Ariel, Head of Pediatric Dpt B and Pediatric Hematology Unit, HaEmek Medical Center, Israel
ClinicalTrials.gov Identifier: NCT01443312    
Other Study ID Numbers: 0047-10-EMC
First Posted: September 29, 2011    Key Record Dates
Last Update Posted: November 1, 2019
Last Verified: October 2019
Keywords provided by Dr Koren Ariel, HaEmek Medical Center, Israel:
Beta globin gene
Alfa globin gene
xmn1 polymorphism
Additional relevant MeSH terms:
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Thalassemia
beta-Thalassemia
Anemia, Hemolytic, Congenital
Anemia, Hemolytic
 Anemia
Hematologic Diseases
Hemoglobinopathies
Genetic Diseases, Inborn