Annals of Hematology

, Volume 92, Issue 3, pp 289–299

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

Review Article

DOI: 10.1007/s00277-012-1671-3

Cite this article as:
Banan, M. Ann Hematol (2013) 92: 289. doi:10.1007/s00277-012-1671-3

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.

Keywords

β-thalassemia Hydroxyurea Pharmacogenomics HbF 

Abbreviations

HU

Hydroxyurea

β-thal

β-thalassemia

SNP

Single nucleotide polymorphism

SCD

Sickle cell disease

Hb

Hemoglobin

HbF

Fetal hemoglobin

HbA

Adult hemoglobin

β-TI

β-thalassemia intermedia

β-TM

β-thalassemia major

HPFH

Hereditary persistence of fetal hemoglobin

GR

Good responder

MR

Minor responder

NR

Nonresponder

GWAS

Genome-wide association study

QTL

Quantitative trait loci

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  1. 1.Genetics Research CenterUniversity of Social Welfare and Rehabilitation SciencesTehranIran

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