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Article

Study on Hydroxyurea Response in Hemoglobinopathies Patients Using Genetic Markers and Liquid Erythroid Cultures

Department of Oncology and Hematology, U.O.C. Hematology for Rare Blood and of Hematopoietic Organs Diseases, A.O. Reunited Hospitals Villa Sofia- Cervello, 180, 90146 Palermo, Italy
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Author to whom correspondence should be addressed.
Hematol. Rep. 2016, 8(4), 56-60; https://doi.org/10.4081/hr.2016.6678
Submission received: 5 July 2016 / Revised: 1 September 2016 / Accepted: 10 November 2016 / Published: 9 December 2016

Abstract

Increased expression of fetal hemoglobin (HbF) may ameliorate the clinical course of hemoglobinopathies. Hydroxyurea (HU) is the only inducer approved for the treatment of these diseases able to stimulate HbF production but patients’ response is highly variable indicating the utility of the identification of pharmacogenomic biomarkers in order to predict pharmacological treatment efficacy. To date few studies to evaluate the role of genetic determinants in HU response have been conducted showing contradictory results. In this study we analyzed BCL11A, GATA-1, KLF-1 genes and γ-globin promoter in 60 alleles from 30 hemoglobinopathies patients under HU treatment to assess the role of these markers in HU response. We did not find any association between these genetic determinants and HU response. Before treatment started, the same patients were analyzed in vitro using liquid erythroid cultures in a test able to predict their response to HU. The results of our analysis confirm the absence of pharmacogenomic biomarker associated to HU response indicating that, the quantification of γ-globin mRNA fold increase remains the only method able to predict in vivo patients response to the drug.
Keywords: hydroxyurea; haemoglobinopathies; genetic markers; liquid erythroid cultures hydroxyurea; haemoglobinopathies; genetic markers; liquid erythroid cultures

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MDPI and ACS Style

Sclafani, S.; Pecoraro, A.; Agrigento, V.; Troia, A.; Di Maggio, R.; Sacco, M.; Maggio, A.; D'Alcamo, E.; Di Marzo, R. Study on Hydroxyurea Response in Hemoglobinopathies Patients Using Genetic Markers and Liquid Erythroid Cultures. Hematol. Rep. 2016, 8, 56-60. https://doi.org/10.4081/hr.2016.6678

AMA Style

Sclafani S, Pecoraro A, Agrigento V, Troia A, Di Maggio R, Sacco M, Maggio A, D'Alcamo E, Di Marzo R. Study on Hydroxyurea Response in Hemoglobinopathies Patients Using Genetic Markers and Liquid Erythroid Cultures. Hematology Reports. 2016; 8(4):56-60. https://doi.org/10.4081/hr.2016.6678

Chicago/Turabian Style

Sclafani, Serena, Alice Pecoraro, Veronica Agrigento, Antonio Troia, Rosario Di Maggio, Massimiliano Sacco, Aurelio Maggio, Elena D'Alcamo, and Rosalba Di Marzo. 2016. "Study on Hydroxyurea Response in Hemoglobinopathies Patients Using Genetic Markers and Liquid Erythroid Cultures" Hematology Reports 8, no. 4: 56-60. https://doi.org/10.4081/hr.2016.6678

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