Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 36, 2012 - Issue 4
268
Views
33
CrossRef citations to date
0
Altmetric
Original Article

The XmnI and BCL11A Single Nucleotide Polymorphisms May Help Predict Hydroxyurea Response in Iranian β-Thalassemia Patients

, , , , , , , , & show all
Pages 371-380 | Received 28 Dec 2011, Accepted 24 Feb 2012, Published online: 11 Jun 2012
 

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.

ACKNOWLEGMENTS

We thank Dr. Sjaak Philipsen (Erasmus Medical Center, Rotterdam, The Netherlands) for his critical comments on the manuscript. This study was supported by the Genetics Research Center (University of Social Welfare and Rehabilitation Sciences, Tehran, Iran) grant 64032 to Mehdi Banan.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.