Hydroxyurea responsiveness in β-thalassemic patients is determined by the stress response adaptation of erythroid progenitors and their differentiation propensity

Haematologica. 2013 May;98(5):696-704. doi: 10.3324/haematol.2012.074492. Epub 2012 Oct 25.

Abstract

β-thalassemia is caused by mutations in the β-globin locus resulting in loss of, or reduced, hemoglobin A (adult hemoglobin, HbA, α2β2) production. Hydroxyurea treatment increases fetal γ-globin (fetal hemoglobin, HbF, α2γ2) expression in postnatal life substituting for the missing adult β-globin and is, therefore, an attractive therapeutic approach. Patients treated with hydroxyurea fall into three categories: i) 'responders' who increase hemoglobin to therapeutic levels; (ii) 'moderate-responders' who increase hemoglobin levels but still need transfusions at longer intervals; and (iii) 'non-responders' who do not reach adequate hemoglobin levels and remain transfusion-dependent. The mechanisms underlying these differential responses remain largely unclear. We generated RNA expression profiles from erythroblast progenitors of 8 responder and 8 non-responder β-thalassemia patients. These profiles revealed that hydroxyurea treatment induced differential expression of many genes in cells from non-responders while it had little impact on cells from responders. Part of the gene program up-regulated by hydroxyurea in non-responders was already highly expressed in responders before hydroxyurea treatment. Baseline HbF expression was low in non-responders, and hydroxyurea treatment induced significant cell death. We conclude that cells from responders have adapted well to constitutive stress conditions and display a propensity to proceed to the erythroid differentiation program.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ADP-Ribosylation Factors / genetics
  • Adaptation, Biological* / genetics
  • Apoptosis / genetics
  • Cell Differentiation
  • Cluster Analysis
  • Cyclin-Dependent Kinase Inhibitor p15 / genetics
  • Cyclin-Dependent Kinase Inhibitor p16 / genetics
  • Erythroid Precursor Cells / cytology*
  • Erythroid Precursor Cells / drug effects
  • Erythroid Precursor Cells / metabolism*
  • Fetal Hemoglobin / genetics
  • Fetal Hemoglobin / metabolism
  • Gene Expression Profiling
  • Gene Expression Regulation
  • Genetic Loci
  • Hemoglobin A / metabolism
  • Humans
  • Hydroxyurea / therapeutic use*
  • Stress, Physiological* / genetics
  • Treatment Outcome
  • beta-Thalassemia / drug therapy*
  • beta-Thalassemia / genetics
  • beta-Thalassemia / metabolism*
  • gamma-Globins / genetics

Substances

  • Cyclin-Dependent Kinase Inhibitor p15
  • Cyclin-Dependent Kinase Inhibitor p16
  • gamma-Globins
  • Hemoglobin A
  • Fetal Hemoglobin
  • ADP-Ribosylation Factors
  • Hydroxyurea