title: Pharmacogenomics and therapeutics of hemoglobinopathies.
abstract: Individual genetic constitution is an important cause of variations in the response and tolerance to drug treatment. Single nucleotide polymorphisms (SNPs) in genes located within as well as outside the human beta-globin cluster have recently been shown to be significantly associated with Hb F increase in relation to hydroxyurea (HU) treatment in hemoglobinopathies patients. This article provides an update and discusses future challenges on the application of pharmacogenetic testing and pharmacogenomics for hemoglobinopathies therapeutics in relation to the current pharmacological treatment modalities for those disorders.
authors.affiliation: Erasmus Medical Center, Faculty of Medicine and Health Sciences Medical Genetics Cluster-Department of Cell Biology and Genetics, Rotterdam, The Netherlands. g.patrinos@erasmusmc.nl
authors.forename: George P
authors.initials: GP
authors.lastname: Patrinos
authors.forename: Frank G
authors.initials: FG
authors.lastname: Grosveld
mesh_terms: D001374:Azacitidine / Q000031:analogs & derivatives / Q000627:therapeutic use; D002087:Butyrates / Q000627:therapeutic use; D000077209:Decitabine; D005319:Fetal Hemoglobin / Q000378:metabolism; D015894:Genome, Human; D006453:Hemoglobinopathies / Q000188:drug therapy* / Q000235:genetics*; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use; D010597:Pharmacogenetics / Q000379:methods*; D020641:Polymorphism, Single Nucleotide
chemical_list: D002087:Butyrates; D000077209:Decitabine; D005319:Fetal Hemoglobin; D001374:Azacitidine; D006918:Hydroxyurea