Genetic Variants Affecting the Clinical Severity of Beta Thalassemia

• Conditions: Beta Thalassemia
• Interventions: Diagnostic Test: Hematological Analysis and Genetical Analysis

• Registration Number: NCT04918056
• Lead Sponsor: Nanfang Hospital, Southern Medical University

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 Timeline

• Study Start: 2017-01-01
• Status Verified: 2021-05
• Study First Submitted: 2021-06-03
• Study First Submitted QC: 2021-06-07
• Study First Posted: 2021-06-08
• Last Update Submitted: 2021-06-08
• Last Update Posted: 2021-06-11
• Primary Completion: 2022-01-11
• Study Completion: 2023-06-25

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 1300

Inclusion Criteria

• Diagnosed with β-thalassemia

Exclusion Criteria

• Iron Deficiency Anemia

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
beta thalassemia patients	Hematological Analysis and Genetical Analysis	-

Primary Outcome Measures

Name	Time	Method
Genetic variants which could influence the phenotype of beta thalassemia	1 year	Identified a group of single-nucleotide polymorphisms (SNPs) that contribute to β-thalassemia

Trial Locations

Locations (1)

Southern Medical University; 🇨🇳 Guangzhou, Guangdong, China