title: Individualizing fetal hemoglobin augmenting therapy for β-type hemoglobinopathies patients.
abstract: Individual genetic composition is an important cause of variations in the response and tolerance to drug treatment. Pharmacogenomics is a modern discipline aiming to delineate individual genomic profiles and drug response. To date, there are several medical disciplines where pharmacogenomics is readily applicable, while in others its usefulness is yet to be demonstrated. Recent experimental evidence suggest that besides genomic variation within the human β-globin gene cluster, other variants in modifier genes residing outside the human β-globin gene cluster are significantly associated with response to hydroxyurea treatment in β-type hemoglobinopathies patients, deducted from the increase in fetal hemoglobin levels. This article aims to provide an update and to discuss future challenges on the application of pharmacogenomics for β-type hemoglobinopathies therapeutics in relation to the current pharmacological treatment modalities for those disorders.
authors.affiliation: University of Patras, School of Health Sciences, Department of Pharmacy, University Campus, Rion, GR-265 04, Patras, Greece.
authors.forename: Aikaterini
authors.initials: A
authors.lastname: Gravia
authors.forename: Vasiliki
authors.initials: V
authors.lastname: Chondrou
authors.forename: Argyro
authors.initials: A
authors.lastname: Sgourou
authors.forename: Ioanna
authors.initials: I
authors.lastname: Papantoni
authors.forename: Joseph
authors.initials: J
authors.lastname: Borg
authors.forename: Theodora
authors.initials: T
authors.lastname: Katsila
authors.forename: Adamantia
authors.initials: A
authors.lastname: Papachatzopoulou
authors.forename: George P
authors.initials: GP
authors.lastname: Patrinos
mesh_terms: D000755:Anemia, Sickle Cell / Q000235:genetics* / Q000473:pathology; D005319:Fetal Hemoglobin / Q000235:genetics*; D006801:Humans; D006918:Hydroxyurea / Q000008:administration & dosage / Q000009:adverse effects* / Q000627:therapeutic use; D010597:Pharmacogenetics; D020641:Polymorphism, Single Nucleotide; D057285:Precision Medicine; D017086:beta-Thalassemia / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology
chemical_list: D005319:Fetal Hemoglobin; D006918:Hydroxyurea
keywords: genotyping; hydroxyurea; pharmacogenomics; sickle cell disease; single nucleotide polymorphisms; β-thalassemia