Article
Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia.
PloS one - 1 Jan 2014
Sheehan Vivien A, Crosby Jacy R, Sabo Aniko, Mortier Nicole A, Howard Thad A, Muzny Donna M, Dugan-Perez Shannon, Aygun Banu, Nottage Kerri A, Boerwinkle Eric, Gibbs Richard A, Ware Russell E, Flanagan Jonathan M
Abstract excerpt
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...
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