title: Correlation of SIN3A genomic variants with β-hemoglobinopathies disease severity and hydroxyurea treatment efficacy.
abstract: OBJECTIVE
  Hemoglobinopathies, particularly β-thalassemia and sickle cell disease, are characterized by great phenotypic variability in terms of disease severity, while notable differences have been observed in hydroxyurea treatment efficacy. In both cases, the observed phenotypic diversity is mostly dependent on the elevated fetal hemoglobin levels, resulting from the persistent fetal globin gene expression in the adult erythroid stage orchestrated by intricate mechanisms that still remain only partly understood. We have previously shown that several protein factors act as modifiers of fetal hemoglobin production, exerting their effect via different pathways.
  
  
  METHODS
  Here, we explored whether SIN3A could act as a modifier of fetal globin gene expression, as it interacts with KLF10, a known modifier of fetal hemoglobin production.
  
  
  RESULTS
  We show that SIN3A genomic variants are associated both with β-thalassemia disease severity (rs11072544) as well as hydroxyurea treatment response (rs7166737) in β-hemoglobinopathies patients.
  
  
  CONCLUSIONS
  Our findings further underline that fetal hemoglobin production is the result of a complex interplay in which several human globin gene cluster variants interact with protein factors encoded by modifier genes to produce the observed clinical outcome.
authors: Department of Pharmacy, School of Health Sciences, University of Patras, University Campus, Rion, Patras, Greece.
authors: Aikaterini
authors: A
authors: Gravia
authors: Department of Pharmacy, School of Health Sciences, University of Patras, University Campus, Rion, Patras, Greece.
authors: Vasiliki
authors: V
authors: Chondrou
authors: Department of Pharmacy, School of Health Sciences, University of Patras, University Campus, Rion, Patras, Greece.
authors: Alexandra
authors: A
authors: Kolliopoulou
authors: Hematology Division, Department of Internal Medicine, Faculty of Medicine, University of Patras, Patras, Greece.
authors: Alexandra
authors: A
authors: Kourakli
authors: Department of Pathology, College of Medicine & Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.
authors: Anne
authors: A
authors: John
authors: Hematology Division, Department of Internal Medicine, Faculty of Medicine, University of Patras, Patras, Greece.
authors: Argyris
authors: A
authors: Symeonidis
authors: Department of Pathology, College of Medicine & Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.
authors: Bassam R
authors: BR
authors: Ali
authors: Hellenic Open University, Patras, Greece.
authors: Argyro
authors: A
authors: Sgourou
authors: Laboratory of General Biology, Faculty of Medicine, University of Patras, Patras, Greece.
authors: Adamantia
authors: A
authors: Papachatzopoulou
authors: Department of Pharmacy, School of Health Sciences, University of Patras, University Campus, Rion, Patras, Greece.
authors: Theodora
authors: T
authors: Katsila
authors: Department of Pharmacy, School of Health Sciences, University of Patras, University Campus, Rion, Patras, Greece.|Department of Pathology, College of Medicine & Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.
authors: George P
authors: GP
authors: Patrinos
keywords:   ; hydroxyurea; pharmacogenomics; treatment response; β-thalassemia