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Genetic Factors Affecting the Severity of Beta Thalassemia

This study has been completed.
Information provided by (Responsible Party):
Deborah Rund, Hadassah Medical Organization Identifier:
First received: September 9, 2005
Last updated: August 9, 2017
Last verified: August 2017
Patients with genetic diseases can have widely differing severities. We are looking for genetic factors which influence the severity of beta thalassemia.

Beta Thalassemia

Study Type: Observational
Study Design: Observational Model: Other
Time Perspective: Other
Official Title: Identification of Novel Genetic Modifiers in Beta-thalassemia

Resource links provided by NLM:

Further study details as provided by Deborah Rund, Hadassah Medical Organization:

Biospecimen Retention:   Samples With DNA
DNA isolated from peripheral blood

Enrollment: 50
Actual Study Start Date: July 2004
Study Completion Date: July 1, 2017
Primary Completion Date: July 1, 2017 (Final data collection date for primary outcome measure)
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.

Ages Eligible for Study:   Child, Adult, Senior
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
  Contacts and Locations
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Please refer to this study by its identifier: NCT00159042

Hadassah Medical Organization
Jerusalem, Israel, IL91120
Sponsors and Collaborators
Deborah Rund
Principal Investigator: Ariella Oppenheim, PhD Hadassah Medical Organization
  More Information

Responsible Party: Deborah Rund, Senior Hematologist, Hadassah Medical Organization Identifier: NCT00159042     History of Changes
Other Study ID Numbers: 302803-HMO-CTIL
Study First Received: September 9, 2005
Last Updated: August 9, 2017

Additional relevant MeSH terms:
Anemia, Hemolytic, Congenital
Anemia, Hemolytic
Hematologic Diseases
Genetic Diseases, Inborn processed this record on September 21, 2017