Thalassemia Screening by Third Generation Sequencing

Not Applicable

Active, not recruiting

• Conditions: Thalassemia Trait; Thalassemia; Mixed

• Registration Number: NCT05552690
• Lead Sponsor: Chiang Mai University

Brief Summary

Test globin gene in participants

Detailed Description

Recruit individuals who documented as thalassemia carrier or disease and who positive thalassemia screening but unknown mutation.

Blood will be sent for third generation sequencing to review alpha and beta globin gene mutation.

Study Timeline

• Study Start: 2022-02-01
• Primary Completion: 2022-04-30
• Study First Submitted: 2022-09-19
• Study First Submitted QC: 2022-09-21
• Study First Posted: 2022-09-23
• Status Verified: 2023-02
• Last Update Submitted: 2023-02-07
• Last Update Posted: 2023-02-08
• Study Completion: 2023-05-31

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 20

Inclusion Criteria

1. Thalassemia carriers or disease individuals with documented as known globin gene mutation.
2. Thalassemia carriers or disease individuals whose mutation did not retrieve from conventional technique and were assigned as no known mutation

Exclusion Criteria

-incomplete medical data

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
Validate accuracy of TGS to provide globin gene mutation compared with conventional testing	6 months after blood test	Percentage of accuracy to give the mutation diagnosis

Secondary Outcome Measures

Name	Time	Method
Additional mutation added by TGS	6 months after blood test	Percentage of mutation are added by sequencing

Trial Locations

Locations (1)

Maharaj Nakorn ChiangMai Hospital; 🇹🇭 ChiangMai, Thailand