Brief Title
Genetic Variants Affecting the Clinical Severity of Beta Thalassemia
Official Title
Screening and Identification of Genetic Modifiers Which Affecting the Phenotype Severity of Beta Thalassemia Patients
Brief Summary
β-thalassemia is one of the most common single gene disorder in Southern China. The
phenotypic severity of beta thalassemia widely varies from mild to severe forms. Patients
with the same beta thalassemia genotype show wide phenotypic variability that ranges from
moderate to severe disease due to various genetic modifiers of disease severity. The aim of
this study is to looking for the genetic factors which could affect the severity of beta
thalassemia.
Detailed Description
The understanding of the genotype-phenotype correlation is a very important issue to the
precise diagnosis of beta thalassemia. However, the genotype-phenotype correlation of Beta
thalassemia is so complex that the pathogenesis of some patients remains uncertain and cannot
be explained by known mechanisms. The study of the role of the genetic variants in modulating
beta thalassemia phenotype could brought us considerable novel and interesting information in
this area. We will collecting more than 1000 beta thalassemia patients , analyzing their
clinical data and genome data, and association study will be conducted to screen the positive
genetic variants which exert a significant effect on both the HbF levels and onset ages of
beta thalassemia patients.
Study Type
Observational
Primary Outcome
Genetic variants which could influence the phenotype of beta thalassemia
Condition
Beta Thalassemia
Intervention
Hematological Analysis and Genetical Analysis
Study Arms / Comparison Groups
beta thalassemia patients
Description:
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Recruitment Status
Diagnostic Test
Estimated Enrollment
1300
Start Date
January 1, 2017
Completion Date
June 25, 2023
Primary Completion Date
January 11, 2022
Eligibility Criteria
Inclusion Criteria:
- Diagnosed with β-thalassemia
Exclusion Criteria:
- Iron Deficiency Anemia
Gender
All
Ages
N/A - N/A
Accepts Healthy Volunteers
No
Contacts
, (20) 61648293, [email protected]
Location Countries
China
Location Countries
China
Administrative Informations
NCT ID
NCT04918056
Organization ID
PDD-Beta thalassemia
Responsible Party
Sponsor
Study Sponsor
Nanfang Hospital of Southern Medical University
Collaborators
303rd Hospital of the People's Liberation Army
Study Sponsor
, ,
Verification Date
May 2021