clinical variation in patients with beta thalassemia Hb E disease beta thalassemia Hb E disease, Thailand, genetic modifier
Conditions
Interventions
Patients with beta thalassemia hemoglobin E with severe clinical phenotype,Patients with beta thalassemia hemoglobin E with mild clinical phenotype
Basic Science,Basic Science
Sponsors
Siriraj Hospital
Eligibility
Sex/Gender
All
Age
4 Years to No maximum
Inclusion criteria
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
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| clinical phenotype 12 months scoring system | — |
Secondary
| Measure | Time frame |
|---|---|
| genotype of beta mutations 12 months whole exome sequencing | — |
Countries
Thailand
Contacts
Public ContactChattree Hantaweepant
Mahidol University
Outcome results
None listed