Phenotype of sickle cell disease. Correlation of haplotypes and polymorphisms in cluster β, BCL11A, and HBS1L−MYB. Pilot study

Abstract excerpt

Objective/Background Sickle cell disease (SCD) is a monogenic disease with a highly variable phenotype depending on the amount of fetal hemoglobin (HbF), the main modulator. Variation of HbF levels among patients is genetically regulated. HbF determines both the phenotype of the disease and the response to treatment with the main drug used, hydroxyurea. The efforts of the researchers have focused on discovering...