Genetic Variants Affecting the Clinical Severity of 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
      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