Genetic study to identify genetic variants which affect clinical severity in Thai patients with beta thalassemia hemoglobin E

Completed

• Conditions: clinical variation in patients with beta thalassemia Hb E disease; beta thalassemia Hb E disease, Thailand, genetic modifier

• Registration Number: TCTR20211022001
• Lead Sponsor: Siriraj Hospital

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Completion: 2018-11-30
• Study Start: 2021-10-22
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Completed
• Sex: All
• Target Recruitment: 338

Inclusion Criteria

1.Thai patients with beta thalassemia hemoglobin E aged over 17 who give consent to collect personal data and DNA
2.Thai children with beta thalassemia hemoglobin E aged over 4 whose parents give consent to collect personal data and DNA
3.Thalassemia diagnosed by hemoglobin typing or polymerase chain reaction or has been reported in medical record

Exclusion Criteria

1.Patients with beta thalassemia hemoglobin E are treated by drugs that affect percentage of hemoglobin F such as hydroxyurea
2.Patients with beta thalassemia hemoglobin E having other diseases which can cause anemia
3.Patients receiving last red blood cell transfusion less than 2 weeks before the start of the study
4.Patients with beta thalassemia hemoglobin E with moderate clinical severity
5.Patients refusing to participate in the study

Study & Design

• Study Type: Observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
clinical phenotype 12 months scoring system

Secondary Outcome Measures

Name	Time	Method
genotype of beta mutations 12 months whole exome sequencing