Genotype-phenotype relationship of patients with β-thalassemia taking hydroxyurea: a 13-year experience in Iran

Int J Hematol. 2012 Jan;95(1):51-6. doi: 10.1007/s12185-011-0985-6. Epub 2011 Dec 20.

Abstract

We evaluated the clinical responses to hydroxyurea (HU), adverse effects, and β-globin gene variants in a large series of β-thalassemic patients over a 13-year period in Iran. The patients (n = 232) were divided into two groups: transfusion-dependent β-thalassemia patients 2 years of age and older (n = 126; Group 1), and β-thalassemia intermedia (βTI) patients without any history of blood transfusion or with a long-interval transfusion (n = 106; Group 2). In Group 1, 86 patients became transfusion-free, and 25 patients needed 1-2 transfusions per year at the end of study. All except three patients in Group 2 were completely transfusion free with a significant increase in Hb level after 1 year compared to the baseline Hb value (P < 0.0001). We did not find a significant correlation of response to HU with XmnI polymorphism or IVS II-I (G > A) mutation (P > 0.05). In our study, HU at a dose of 8-15 mg/kg/day was effective in decreasing or effecting cessation of the need for regular blood transfusion, as well as in increasing Hb levels in β-thalassemia patients, without any major side effects. Hydroxyurea may thus represent a safe alternative to blood transfusion in transfusion-dependent β-thalassemia patients, or help to increase Hb level in untransfused βTI patients.

MeSH terms

  • Adolescent
  • Adult
  • Antimetabolites / adverse effects
  • Antimetabolites / therapeutic use
  • Child
  • Child, Preschool
  • Dose-Response Relationship, Drug
  • Drug Resistance
  • Female
  • Follow-Up Studies
  • Genetic Association Studies
  • Humans
  • Hydroxyurea / administration & dosage
  • Hydroxyurea / adverse effects
  • Hydroxyurea / therapeutic use*
  • Iran
  • Male
  • Middle Aged
  • Mutation*
  • Polymorphism, Genetic*
  • Retrospective Studies
  • Site-Specific DNA-Methyltransferase (Adenine-Specific) / genetics*
  • Transfusion Reaction
  • Young Adult
  • beta-Globins / genetics*
  • beta-Thalassemia / drug therapy*
  • beta-Thalassemia / genetics*
  • beta-Thalassemia / physiopathology
  • beta-Thalassemia / therapy

Substances

  • Antimetabolites
  • beta-Globins
  • DNA modification methylase XmnI
  • Site-Specific DNA-Methyltransferase (Adenine-Specific)
  • Hydroxyurea