MedPath

Thalassemia Screening by Third Generation Sequencing

Not Applicable
Active, not recruiting
Conditions
Thalassemia Trait
Thalassemia; Mixed
Interventions
Procedure: blood draw
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.

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
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Exclusion Criteria

-incomplete medical data

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Study & Design

Study Type
INTERVENTIONAL
Study Design
SINGLE_GROUP
Arm && Interventions
GroupInterventionDescription
Thalassemia screening positiveblood drawIn this study only 1 group of participants. No comparative. Only description
Primary Outcome Measures
NameTimeMethod
Validate accuracy of TGS to provide globin gene mutation compared with conventional testing6 months after blood test

Percentage of accuracy to give the mutation diagnosis

Secondary Outcome Measures
NameTimeMethod
Additional mutation added by TGS6 months after blood test

Percentage of mutation are added by sequencing

Trial Locations

Locations (1)

Maharaj Nakorn ChiangMai Hospital

🇹🇭

ChiangMai, Thailand

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