Study of the Role of Genetic Modifiers in Hemoglobinopathies
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age2+
SponsorCyprus Institute of Neurology and Genetics
This study will investigate the role of genetic modifiers in hemoglobinopathies through a large-scale, multi-ethnic genome-wide association study (GWAS).
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.
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.