Larnaka

Researchers are investigating how genetic modifiers influence hemoglobinopathies, including sickle cell disease and beta-thalassemia. These diseases vary widely in severity, and while some genetic factors have been identified, more are believed to exist that impact disease outcomes. This large-scale, multi-ethnic genome-wide association study (GWAS) aims to discover new genetic modifiers, validate known ones, pool existing genetic data, standardize disease descriptions, and develop risk scores to better classify patients. The study will perform GWAS using SNP chips on blood samples collected during routine clinical visits or existing biobank DNA samples. Participants with various hemoglobinopathy genotypes will be included without restrictions on gender or ethnicity. The research will analyze genetic factors related to survival, complications like stroke, renal impairment, pain syndromes, and responses to treatments such as hydroxyurea and iron chelation. Data collected will contribute to a comprehensive research resource combining genomic, phenotypic, and functional information. Participants will provide consent and contribute blood samples if DNA is not already available. Researchers will gather worldwide demographic and clinical data from multiple centers. The primary outcome measured over five years is the identification of genetic modifiers influencing disease traits and treatment responses. This extensive monitoring and data collection aim to improve understanding and risk stratification of hemoglobinopathies globally.