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Genetic Factors Affecting the Severity of Beta Thalassemia

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified June 2011 by Hadassah Medical Organization.
Recruitment status was:  Recruiting
Information provided by:
Hadassah Medical Organization Identifier:
First received: September 9, 2005
Last updated: June 22, 2011
Last verified: June 2011
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
Official Title: Identification of Novel Genetic Modifiers in Beta-thalassemia

Resource links provided by NLM:

Further study details as provided by Hadassah Medical Organization:

Biospecimen Retention:   Samples With DNA
DNA isolated from peripheral blood

Estimated Enrollment: 200
Study Start Date: July 2004
Estimated Study Completion Date: April 2012
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
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 identifier: NCT00159042

Contact: Deborah Rund, MD 00 972 2 6778712
Contact: Hadas Lemberg, PhD 00 972 2 6777572

Hadassah Medical Organization Recruiting
Jerusalem, Israel, IL91120
Contact: Arik Tzukert, DMD    00 972 2 6776095   
Contact: Hadas Lemberg, PhD    00 972 2 6777572   
Principal Investigator: Ariella Oppenheim, PhD         
Sub-Investigator: Deborah Rund, MD         
Sub-Investigator: Dvora Filon, PhD         
Sponsors and Collaborators
Hadassah Medical Organization
Principal Investigator: Ariella Oppenheim, PhD Hadassah Medical Organization
  More Information

Responsible Party: Deborah Rund, Hadassah Medical Organization Identifier: NCT00159042     History of Changes
Other Study ID Numbers: 302803-HMO-CTIL
Study First Received: September 9, 2005
Last Updated: June 22, 2011

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