The XmnI and BCL11A single nucleotide polymorphisms may help predict hydroxyurea response in Iranian β-thalassemia patients

Hemoglobin. 2012;36(4):371-80. doi: 10.3109/03630269.2012.691147. Epub 2012 Jun 11.

Abstract

Hydroxyurea (HU), a drug which can reactivate fetal hemoglobin (Hb F) production, is frequently prescribed to β-thalassemia (β-thal) patients. However, transfusion requirements of only a subset of patients are reduced upon HU treatment. Because of its potential side-effects, targeted prescription of HU is imperative. To identify genetic markers that correlate with drug response, we have carried out a retrospective association study of single nucleotide polymorphisms (SNPs) in three Hb F quantitative trait loci (QTLs): the XmnI polymorphism, BCL11A, and the HBS1L-MYB intergenic region, with the response to HU in a cohort of 81 transfusion-dependent Iranian β-thal patients. An increase in blood transfusion intervals post-therapy was used to measure drug response. Our results suggest that presence of the XmnI T/T genotype or the BCL11A rs766432 C allele correlates strongly with response to HU (p <0.001). Accordingly, these markers may be used to accurately predict the HU response of Iranian β-thal patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Antisickling Agents / therapeutic use
  • Blood Transfusion
  • Female
  • Fetal Hemoglobin / genetics*
  • Gene Frequency
  • Genotype
  • Humans
  • Hydroxyurea / therapeutic use*
  • Iran
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Prognosis
  • Retrospective Studies
  • Treatment Outcome
  • Young Adult
  • beta-Thalassemia / drug therapy*
  • beta-Thalassemia / genetics*
  • beta-Thalassemia / therapy

Substances

  • Antisickling Agents
  • Fetal Hemoglobin
  • Hydroxyurea