Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/28047
Title: KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients
Authors: Borg, Joseph
Phylactides, Marios
Bartsakoulia, Marina
Tafrali, Christina
Lederer, Carsten
Felice, Alex E.
Papachatzopoulou, Adamantia
Kourakli, Alexandra
Stavrou, Eleana F.
Christou, Soteroula
Hou, Jun
Karkabouna, Sophia
Lappa-Manakou, Christina
Ozgur, Zeliha
IJcken, Wilfred van
Lindern, Marieke von
Grosveld, Frank G.
Georgitsi, Marianthi
Kleanthous, Marina
Philipsen, Sjaak
Patrinos, George P.
Keywords: Hemoglobinopathy
Hydroxyurea
Pharmacogenomics
Thalassemia -- Malta
Issue Date: 2012
Publisher: Future Medicine
Citation: Borg, J., Phylactides, M., Bartsakoulia, M., Tafrali, C., Lederer, C., Felice, A. E.,...Patrinos, G. P. (2012). KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients. Pharmacogenomics, 13(13), 1487-1500.
Abstract: Aim: In humans, fetal hemoglobin (HbF) production is controlled by many intricate mechanisms that, to date, remain only partly understood. Patients & methods: Pharmacogenomic analysis of the effects of hydroxyurea (HU) on HbF production was undertaken in a collection of Hellenic β‑thalassemia and sickle cell disease (SCD) compound heterozygotes and a collection of healthy and KLF1-haploinsufficient Maltese adults, to identify genomic signatures that follow high HbF patterns. Results: KLF10 emerged as a top candidate. Moreover, genotype analysis of β‑thalassemia major and intermedia patients and an independent cohort of β‑thalassemia/SCD compound heterozygous patients that do or do not respond to HU treatment showed that the homozygous mutant state of a tagSNP in the KLF10 3’‑UTR is not present in β‑thalassemia intermedia patients and is underrepresented in β‑thalassemia/SCD compound heterozygous patients that respond well to HU treatment. Conclusion: These data suggest that KLF10 may constitute a pharmacogenomic marker to discriminate between response and nonresponse to HU treatment.
URI: https://www.um.edu.mt/library/oar//handle/123456789/28047
Appears in Collections:Scholarly Works - FacM&SPB

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