Genetic Variants Affecting the Clinical Severity of Beta Thalassemia

  • End date
    Jun 25, 2023
  • participants needed
  • sponsor
    Nanfang Hospital of Southern Medical University
Updated on 20 June 2021
beta thalassemia


-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.


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.

Condition beta Thalassemia, beta-thalassemia, Thalassemia
Treatment Hematological Analysis and Genetical Analysis
Clinical Study IdentifierNCT04918056
SponsorNanfang Hospital of Southern Medical University
Last Modified on20 June 2021


Yes No Not Sure

Inclusion Criteria

Diagnosed with -thalassemia

Exclusion Criteria

Iron Deficiency Anemia
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