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

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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.

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Acknowledgments

We thank the Vice Chancellery for Research of Shiraz University of Medical Sciences for approval support.

Conflict of interest

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran

    Mehran Karimi, Sezaneh Haghpanah, Ali Farhadi & Majid Yavarian

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  1. Mehran Karimi
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  2. Sezaneh Haghpanah
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  3. Ali Farhadi
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  4. Majid Yavarian
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Correspondence to Mehran Karimi.

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Karimi, M., Haghpanah, S., Farhadi, A. et al. Genotype–phenotype relationship of patients with β-thalassemia taking hydroxyurea: a 13-year experience in Iran. Int J Hematol 95, 51–56 (2012). https://doi.org/10.1007/s12185-011-0985-6

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  • DOI: https://doi.org/10.1007/s12185-011-0985-6

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