Abstract:Sickle cell disease (SCD), despite being a monogenic disease, presents a highly variable phenotype that essentially depends on the amount of fetal hemoglobin (HbF), constituting the main modulator of the disease. The variation of HbF levels between patients is genetically regulated.
HbF determines both the phenotype of the disease and the response to treatment with the main drug used, hydroxyurea. Researchers’ efforts have focused on discovering the genetic factors responsible for its variation; mainly describ… Show more
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