Genetic Variants Affecting the Clinical Severity of Beta Thalassemia

Phase

N/A

Condition

Thalassemia

Treatment

N/A

Clinical Study ID

NCT04918056

PDD-Beta thalassemia

All Genders

Study 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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

Diagnosed with β-thalassemia

Exclusion

Exclusion Criteria:

Iron Deficiency Anemia

Study Design

January 01, 2017

June 25, 2023

Study 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.

Connect with a study center

Southern Medical University
Guangzhou, Guangdong 510515
China
Active - Recruiting

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