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 β-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.

Keywords:

• Pharmacogenomics
• Pharmacogenetics
• β-Thalassemia (thal)
• Sickle cell disease
• Genotyping
• Single nucleotide polymorphisms (SNPs)