Study of the Role of Genetic Modifiers in Hemoglobinopathies

What this Trial Is About

Researchers are studying genetic modifiers in hemoglobinopathies, including sickle cell disease and beta-thalassemia, through a large-scale, multi-ethnic genome-wide association study (GWAS). These diseases vary widely in severity, influenced partly by genetic factors. The study aims to discover new genetic modifiers, validate known ones, pool existing genomic data, standardize disease descriptions, create a comprehensive research resource, and develop risk scores to help stratify patients based on disease severity and treatment response. The study will collect blood samples during routine clinical visits to perform GWAS experiments on individuals with hemoglobinopathies. Participants include those with various genotypes of sickle cell disease, beta-thalassemia, and alpha-thalassemia, without restrictions on gender or ethnicity. All participants will provide consent, and DNA samples may be collected if not already available in existing biobanks. Participants will contribute data including genetic, phenotypic, and functional information. The study will analyze worldwide patient demographics, genotypes, and disease severity. Researchers will investigate genetic modifiers related to survival, neurological function, renal impairment, pain syndromes, pulmonary hypertension, and treatment responses. This observational study involves data collection over five years, with no investigational treatments administered.

Study of the Role of Genetic Modifiers in Hemoglobinopathies