Genetic Factors Affecting the Severity of Beta Thalassemia

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

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Key information

Conditions

Beta Thalassemia Anemia Anemia, Hemolytic Anemia, Hemolytic, Congenital Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hematologic Diseases Hemic and Lymphatic Diseases Hemoglobinopathies Thalassemia beta-Thalassemia

Sex eligibility

All sexes

Study type

Observational

Primary location

Hadassah Medical Organization

Jerusalem, IL91120, Israel

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Identification of homozygous IVS1 nt 6 beta thalassemia mutation

Sponsors and collaborators

Lead sponsor

Deborah Rund

Other

Registry information

Official study title

Identification of Novel Genetic Modifiers in Beta-thalassemia

Important dates

Study start: 2004
Primary completion: 2017
Study completion: 2017
First posted: Sep 12, 2005
Registry last updated: Aug 10, 2017

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed