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Genetic Factors Affecting the Severity of Beta Thalassemia

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.
ClinicalTrials.gov Identifier: NCT00159042
Recruitment Status : Completed
First Posted : September 12, 2005
Last Update Posted : August 10, 2017
Information provided by (Responsible Party):
Deborah Rund, Hadassah Medical Organization

Brief Summary:
Patients with genetic diseases can have widely differing severities. We are looking for genetic factors which influence the severity of beta thalassemia.

Condition or disease
Beta Thalassemia

Detailed Description:
The understanding of the phenotypic variability of genetically homogeneous disorders represents a major challenge. In beta thalassemia, the beta globin gene is affected by a variety of mutations. The group of patients to be analyzed here is homozygous for a splice site mutation that is common in the Middle East. In contrast to this genetic homogeneity, the spectrum of the clinical phenotype ranges from mild anemia to most severe, transfusion dependent anemia. We will use a genetic linkage approach to identify modifying factors and by analyzing the efficiency of an mRNA surveillance mechanism that is referred to as nonsense-mediated decay and represents a candidate genetic modifier of beta thalassemia and other genetic disorders.

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Study Type : Observational
Actual Enrollment : 50 participants
Observational Model: Other
Time Perspective: Other
Official Title: Identification of Novel Genetic Modifiers in Beta-thalassemia
Actual Study Start Date : July 2004
Actual Primary Completion Date : July 1, 2017
Actual Study Completion Date : July 1, 2017

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Thalassemia

Biospecimen Retention:   Samples With DNA
DNA isolated from peripheral blood

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients analyzed for beta thalassemia in our laboratory in Hadassah.

Inclusion Criteria:

  • Identification of homozygous IVS1 nt 6 beta thalassemia mutation

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): NCT00159042

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Hadassah Medical Organization
Jerusalem, Israel, IL91120
Sponsors and Collaborators
Deborah Rund
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Principal Investigator: Ariella Oppenheim, PhD Hadassah Medical Organization
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Responsible Party: Deborah Rund, Senior Hematologist, Hadassah Medical Organization
ClinicalTrials.gov Identifier: NCT00159042    
Other Study ID Numbers: 302803-HMO-CTIL
First Posted: September 12, 2005    Key Record Dates
Last Update Posted: August 10, 2017
Last Verified: August 2017
Additional relevant MeSH terms:
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Anemia, Hemolytic, Congenital
Anemia, Hemolytic
Hematologic Diseases
Genetic Diseases, Inborn