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Full-Text Articles in Medicine and Health Sciences
Whole Exome Sequencing Identifies Novel Genes For Fetal Hemoglobin Response To Hydroxyurea In Children With Sickle Cell Anemia., V. A. Sheehan, J. R. Crosby, A. Sabo, N. A. Mortier, T. A. Howard, D. M. Muzny, S. Dugan-Perez, Banu Aygun, K. A. Nottage, J. M. Flanagan, +3 Additional Authors
Whole Exome Sequencing Identifies Novel Genes For Fetal Hemoglobin Response To Hydroxyurea In Children With Sickle Cell Anemia., V. A. Sheehan, J. R. Crosby, A. Sabo, N. A. Mortier, T. A. Howard, D. M. Muzny, S. Dugan-Perez, Banu Aygun, K. A. Nottage, J. M. Flanagan, +3 Additional Authors
Journal Articles
Hydroxyurea has proven efficacy in children and adults with sickle cell anemia (SCA), but with considerable inter-individual variability in the amount of fetal hemoglobin (HbF) produced. Sibling and twin studies indicate that some of that drug response variation is heritable. To test the hypothesis that genetic modifiers influence pharmacological induction of HbF, we investigated phenotype-genotype associations using whole exome sequencing of children with SCA treated prospectively with hydroxyurea to maximum tolerated dose (MTD). We analyzed 171 unrelated patients enrolled in two prospective clinical trials, all treated with dose escalation to MTD. We examined two MTD drug response phenotypes: HbF (final …