Your browser doesn't support javascript.
loading
Role of Genomic Biomarkers in Increasing Fetal Hemoglobin Levels Upon Hydroxyurea Therapy and in ß-Thalassemia Intermedia: A Validation Cohort Study.
Kolliopoulou, Alexandra; Siamoglou, Stavroula; John, Anne; Sgourou, Argyro; Kourakli, Alexandra; Symeonidis, Argiris; Vlachaki, Efthymia; Chalkia, Panagiota; Theodoridou, Stamatia; Ali, Bassam R; Katsila, Theodora; Patrinos, George P; Papachatzopoulou, Adamantia.
Afiliación
  • Kolliopoulou A; a University of Patras , Medical Faculty, Laboratory of General Biology , Patras , Greece.
  • Siamoglou S; b School of Health Sciences, Department of Pharmacy, Laboratory of Pharmacogenomics and Individualized Therapy , University of Patras , Greece.
  • John A; c United Arab Emirates University , College of Medicine and Health Sciences, Department of Pathology , Al-Ain , United Arab Emirates.
  • Sgourou A; d School of Science and Technology, Biology Laboratory , Hellenic Open University , Patras , Greece.
  • Kourakli A; e Thalassemia and Hemoglobinopathies Unit, Hematology Division, Department of Internal Medicine , University of Patras Medical School, University Hospital , Patras , Greece.
  • Symeonidis A; f Medical School, Hematology Division, Department of Internal Medicine , University of Patras, University of Patras , Greece.
  • Vlachaki E; g Adults Thalassemia Unit , 'Hippokration' General Hospital of Thessaloniki , Greece.
  • Chalkia P; h Thalassemia and Sickle Cell Unit , University General Hospital of Thessaloniki , Greece.
  • Theodoridou S; g Adults Thalassemia Unit , 'Hippokration' General Hospital of Thessaloniki , Greece.
  • Ali BR; c United Arab Emirates University , College of Medicine and Health Sciences, Department of Pathology , Al-Ain , United Arab Emirates.
  • Katsila T; b School of Health Sciences, Department of Pharmacy, Laboratory of Pharmacogenomics and Individualized Therapy , University of Patras , Greece.
  • Patrinos GP; b School of Health Sciences, Department of Pharmacy, Laboratory of Pharmacogenomics and Individualized Therapy , University of Patras , Greece.
  • Papachatzopoulou A; c United Arab Emirates University , College of Medicine and Health Sciences, Department of Pathology , Al-Ain , United Arab Emirates.
Hemoglobin ; 43(1): 27-33, 2019 Jan.
Article en En | MEDLINE | ID: mdl-31039620
Hemoglobinopathies exhibit a remarkable phenotypic diversity in terms of disease severity, while individual genetic background plays a key role in differential response to drug treatment. In the last decade, genomic variants in genes located within, as well as outside the human ß-globin cluster have been shown to be significantly associated with Hb F increase, in relation to hydroxyurea (HU) therapy in patients with these diseases. Here, we aim to determine the effect of genomic variants located in genes, such as MAP3K5, ASS1, NOS2A, TOX, PDE7B, NOS1, FLT1 and ARG2, previously shown to modulate fetal hemoglobin (Hb F) levels in patients with ß type hemoglobinopathies and reflecting disease severity and response to HU therapy in an independent cohort of Greek patients with these diseases. We recruited and genotyped 45 ß-thalassemia patients (ß-thal), either transfusion-dependent (TDT) or non transfusion-dependent (NTDT), 42 Hb S (HBB: c.20A>T)-ß-thal compound heterozygotes, who were treated with HU, as well as 53 healthy individuals, all of Hellenic origin. Our study showed that genomic variants of the MAP3K5, NOS2A and ARG2 gene are associated with HU therapy efficacy in Hb S-ß-thal compound heterozygotes. We have also shown that FLT1 and ARG2 genomic variants are associated with the mild phenotype of NTDT patients. Our findings provide evidence that MAP3K5, NOS2A, ARG2 and FLT1 genomic variants could be considered as genomic biomarkers to predict HU therapy efficacy in Hb S-ß-thal compound heterozygotes and also to describe disease severity in patients with ß type hemoglobinopathies.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hemoglobina Fetal / Biomarcadores / Talasemia beta / Globinas beta / Hidroxiurea Tipo de estudio: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Hemoglobin Año: 2019 Tipo del documento: Article País de afiliación: Grecia Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hemoglobina Fetal / Biomarcadores / Talasemia beta / Globinas beta / Hidroxiurea Tipo de estudio: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Hemoglobin Año: 2019 Tipo del documento: Article País de afiliación: Grecia Pais de publicación: Reino Unido