NCT04918056

Genetic Variants Affecting the Clinical Severity of Beta Thalassemia

Screening and Identification of Genetic Modifiers Which Affecting the Phenotype Severity of Beta Thalassemia Patients

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 1,300 (estimated)
• Sponsor: Nanfang Hospital, Southern Medical University · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

• Beta Thalassemia

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Hematological Analysis and Genetical Analysis	Hematological Analysis: Hematological parameters were determined with an automated hematology analyzer (Sysmex, Japan), and hemoglobin analysis was performed with either high-performance liquid chromatography (Bio-Rad, USA) or capillary electrophoresis (Sebia, France and Helena, USA). Genetical Analysis: Genomic DNA was extracted from peripheral blood (PB) by using a standard phenol/chloroform method. The genotypes of samples are analyzed by NGS assay.

Timeline

• Start date: 2017-01-01
• Primary completion: 2022-01-11
• Completion: 2023-06-25
• First posted: 2021-06-08
• Last updated: 2021-06-11

Locations

1 site across 1 country: China