Study of the Role of Genetic Modifiers in Hemoglobinopathies
Cyprus Institute of Neurology and Genetics
Summary
This study will investigate the role of genetic modifiers in hemoglobinopathies through a large-scale, multi-ethnic genome-wide association study (GWAS).
Description
Hemoglobinopathies, including sickle cell disease (SCD) and beta-thalassemia, are prevalent diseases with variable clinical manifestation and severity that are thought to be governed, in part, by genetic modifiers. Despite the identification and characterization of a few putative genetic modifiers by previous studies, these are as yet insufficient to guide treatment recommendations or risk-stratify patients reliably. Also, it is expected that many additional genetic variants exist that can modify disease and its severity. This large-scale genome-wide association study (GWAS) will utilize SNP c…
Eligibility
- Age range
- 2+ years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Clinical diagnosis of an inherited hemoglobinopathy, including sickle cell disease (SCD), β-thalassemia, and α-thalassemia; all genotypes will be considered. * Age ≥ 2 years old at the time of the collection of the phenotypic data. * There will be no limits on study participants in terms of gender, ethnicity, morbidities. Exclusion Criteria: * Patients treated with stem cell transplantation or genetic therapy. * Age \< 2 years old at the time of the collection of the phenotypic data. * Patient or legal representative for minors unwilling or unable to give consent.
Interventions
- GeneticGWAS
The study will perform a GWAS experiments for all recruited subjects. The blood sample will be collected during routine clinical visits, only if DNA is not already available in existing biobanks. All individuals will provide consent for participation in the study.
Locations (26)
- Boston Children's HospitalBoston, Massachusetts
- Lucrecia Paím MaternityLuanda
- University of Buenos AiresBuenos Aires
- University Hospitals LeuvenLeuven
- Universiti Brunei DarussalamBrunei
- Larnaca General HospitalLarnaca