Thalassemia Screening by Third Generation Sequencing

Thalassemia Screening by Third Generation Sequencing (TGS): Pilot Study in Thai Population

Status

UNKNOWN

Phases

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT05552690

Enrollment

Registered

2022-09-23

Start date

2022-02-01

Completion date

2023-05-31

Last updated

2023-02-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Thalassemia; Mixed, Thalassemia Trait

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.

Interventions

PROCEDUREblood draw

10 ml of blood will be draw to genetic analysis (sequencing)

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

DIAGNOSTIC

Masking

NONE

Eligibility

Sex/Gender

ALL

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
Additional mutation added by TGS	6 months after blood test	Percentage of mutation are added by sequencing

Countries

Thailand

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026