Hydroxyurea treatment in β-thalassemia patients: to respond or not to respond?

Ann Hematol. 2013 Mar;92(3):289-99. doi: 10.1007/s00277-012-1671-3. Epub 2013 Jan 15.

Abstract

Hydroxyurea (HU) is a drug that induces fetal hemoglobin production. As a result, HU is widely used to treat β-thalassemia (β-thal) patients. However, the response of these patients to HU varies. Some β-thal patients respond favorably to treatment while others do not respond at all. HU has a number of side-effects and therefore its targeted prescription is beneficial. Hence, identifying the genetic determinants which lead to the differential HU response is important. This review summarizes recent findings which have shed light on this topic. Special emphasis is given to the mechanisms and genetic loci which may govern these differences. These findings have helped identify several single nucleotide polymorphisms which associate with the response to HU in both β-thal and sickle cell disease patients.

Publication types

  • Review

MeSH terms

  • Animals
  • Enzyme Inhibitors / chemistry
  • Enzyme Inhibitors / pharmacology
  • Enzyme Inhibitors / therapeutic use
  • Humans
  • Hydroxyurea / chemistry
  • Hydroxyurea / pharmacology
  • Hydroxyurea / therapeutic use*
  • Polymorphism, Single Nucleotide / genetics
  • Signal Transduction / drug effects
  • Signal Transduction / physiology
  • Treatment Outcome
  • beta-Thalassemia / drug therapy*
  • beta-Thalassemia / genetics
  • beta-Thalassemia / metabolism

Substances

  • Enzyme Inhibitors
  • Hydroxyurea