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Study of the Role of Genetic Modifiers in Hemoglobinopathies

Exploring genes' impact on blood disorders.

Recruiting
2 years and older
All
Phase N/A
**Study of the Role of Genetic Modifiers in Hemoglobinopathies** This study will look at how genes (tiny parts of your DNA that come from your parents) affect blood diseases called hemoglobinopathies. These diseases include sickle cell disease (SCD) and beta-thalassemia. Previous studies found some gene differences, but they aren't enough to help doctors decide on treatments or predict how sick a person might get. This research will use a special test called a genome-wide association study (GWAS) to find more of these gene differences. It will include many people from different backgrounds to make sure the study is strong and reliable. The study will try to: find new gene differences, check old ones, and see how these genes affect the disease and treatments. Participants must be at least 2 years old, have a hemoglobinopathy, and must not have had certain treatments like stem cell therapy. **Key Points:** - **Participation**: Anyone 2 years or older with certain blood diseases can join. - **Exclusion**: People who had a stem cell or genetic therapy cannot join. - **Goal**: Find gene differences to help improve treatment and understanding of these diseases.
Study details
    Sickle Cell Disease
    Thalassemia
    Beta
    Thalassemia Alpha
    Hemoglobinopathies

NCT05799118

Cyprus Institute of Neurology and Genetics

17 April 2026

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