Genetic Variants Affecting the Clinical Severity of Beta Thalassemia

June 8, 2021 updated by: Nanfang Hospital of Southern Medical University

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

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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

Enrollment (Anticipated)

1300

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: Xiangmin Xu, Prof. Dr.
  • Phone Number: 86 (20) 61648293
  • Email: xixm@smu.edu.cn

Study Locations

  • China
    • Guangdong
      • Guangzhou, Guangdong, China, 510515
        • Recruiting
        • Southern Medical University
        • Contact:
          • Xiangmin Xu, Prof. Dr.
          • Phone Number: 86 (20) 61648293
          • Email: xixm@smu.edu.cn

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

beta thalassemia patients from Southern China.

Description

Inclusion Criteria:

  • Diagnosed with β-thalassemia

Exclusion Criteria:

  • Iron Deficiency Anemia

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
beta thalassemia patients
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Genetic variants which could influence the phenotype of beta thalassemia
Time Frame: 1 year
Identified a group of single-nucleotide polymorphisms (SNPs) that contribute to β-thalassemia
1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Nanfang Hospital of Southern Medical University

Collaborators

303rd Hospital of the People's Liberation Army
Liuzhou Municipal Maternity and Child Healthcare Hospital
Zhuhai Municipal Maternal and Child Healthcare Hospital
Dong Guan Maternal and Child Health Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 1, 2017

Primary Completion (Anticipated)

January 11, 2022

Study Completion (Anticipated)

June 25, 2023

Study Registration Dates

First Submitted

June 3, 2021

First Submitted That Met QC Criteria

June 7, 2021

First Posted (Actual)

June 8, 2021

Study Record Updates

Last Update Posted (Actual)

June 11, 2021

Last Update Submitted That Met QC Criteria

June 8, 2021

Last Verified

May 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • PDD-Beta thalassemia

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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