Genetic Variants Affecting the Clinical Severity of Beta Thalassemia

Learn more about:
Related Clinical Trial
The Safety and Efficiency of Luspatercept in Chinese Adults With Transfusion Dependent β-thalassemia: a Real-world Study Assessment of Cognitive Function, Fatigue and Health Related Quality of Life in Children With Beta Thalassemia Safety and Efficacy Evaluation of γ-globin Reactivated Autologous Hematopoietic Stem Cells EDIT-301 for Autologous Hematopoietic Stem Cell Transplant (HSCT) in Participants With Transfusion-Dependent Beta Thalassemia (TDT) The Prevelence of IVS 1-6 (T-C) [HBB:c.92 +6 T-C] Gene Mutation in Suspected Cases of β Thalassemia in Assiut University Hospitals Evaluation of Safety and Efficacy of CTX001 in Pediatric Participants With Transfusion-Dependent β-Thalassemia (TDT) Study on the Effect of Different Risk Factors on the Growth Parameters of Thalassemic Patients in Assiut (AUCH) The Prevelence of HBB c.93-21 G-A in β Thalassemia Patients Study to Evaluate Additional Risk Minimisation Measures (aRMMs) for REBLOZYL Among Healthcare Professionals (HCPs) Thrombin Generation in Beta-thalassemia Major Iron Status in BTM With Blood Transfusion Efficacy and Safety Study of Multiple Doses of VIT-2763 in Adults With Transfusion-dependent Beta-thalassemia Genetic Variants Affecting the Clinical Severity of Beta Thalassemia Association of Hb F Level With Clinical Severity of Beta Thalassemia Safety and Efficacy Evaluation of β-globin Restored Autologous Hematopoietic Stem Cells in β-thalassemia Major Patients The Role of OCTA in Patients Affected by Beta Thalassemia

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

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


Primary Outcome

Genetic variants which could influence the phenotype of beta thalassemia


Beta Thalassemia


Hematological Analysis and Genetical Analysis

Study Arms / Comparison Groups

 beta thalassemia patients


* 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


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




N/A - N/A

Accepts Healthy Volunteers



, (20) 61648293, [email protected]

Location Countries


Location Countries


Administrative Informations



Organization ID

PDD-Beta thalassemia

Responsible Party


Study Sponsor

Nanfang Hospital of Southern Medical University


 303rd Hospital of the People's Liberation Army

Study Sponsor

, , 

Verification Date

May 2021