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Genetic Variants Affecting the Clinical Severity of Beta Thalassemia

NCT04918056 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 1300

Last updated 2021-06-11

No results posted yet for this 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.

Conditions

  • Beta Thalassemia

Interventions

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.

Sponsors & Collaborators

  • 303rd Hospital of the People's Liberation Army

    collaborator OTHER

  • Liuzhou Municipal Maternity and Child Healthcare Hospital

    collaborator UNKNOWN

  • Zhuhai Municipal Maternal and Child Healthcare Hospital

    collaborator UNKNOWN

  • Dong Guan Maternal and Child Health Hospital

    collaborator UNKNOWN

  • Nanfang Hospital, Southern Medical University

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2017-01-01
Primary Completion
2022-01-11
Completion
2023-06-25

Countries

  • China

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04918056 on ClinicalTrials.gov