Role of iron metabolism genetic determinants in response to chelation therapy in a cohort of β-thalassemia and sickle cell syndromes Italian patients

  • Maria Concetta Renda | mc_renda@libero.it UOC Ematologia per le Malattie Rare del Sangue e degli Organi Ematopoietici, AO Ospedali Riuniti Villa Sofia-Cervello, Palermo, Italy.
  • Disma Renda UOC Ematologia per le Malattie Rare del Sangue e degli Organi Ematopoietici, AO Ospedali Riuniti Villa Sofia-Cervello, Palermo, Italy.
  • Angela Piazza UOC Ematologia per le Malattie Rare del Sangue e degli Organi Ematopoietici, AO Ospedali Riuniti Villa Sofia-Cervello, Palermo, Italy.
  • Giuseppina Calvaruso UOC Ematologia per le Malattie Rare del Sangue e degli Organi Ematopoietici, AO Ospedali Riuniti Villa Sofia-Cervello, Palermo, Italy.
  • Emanuela Fecarotta UOC Ematologia per le Malattie Rare del Sangue e degli Organi Ematopoietici, AO Ospedali Riuniti Villa Sofia-Cervello, Palermo, Italy.
  • Antonino Giangreco UOC Ematologia per le Malattie Rare del Sangue e degli Organi Ematopoietici, AO Ospedali Riuniti Villa Sofia-Cervello, Palermo, Italy.
  • Aurelio Maggio UOC Ematologia per le Malattie Rare del Sangue e degli Organi Ematopoietici, AO Ospedali Riuniti Villa Sofia-Cervello, Palermo, Italy.

Abstract

In patients with β-thalassemia and sickle cell syndromes there is an important secondary iron overload due to regular blood transfusions and increased duodenal iron absorption. As in genetic hemochromatosis, also the secondary iron storage leads to tissue injury that involves all the major organs: liver, heart, kidney, endocrine glands. At present, in patients with β-thalassemia and sickle cell syndrome, iron chelation therapy is widely used for the treatment of secondary hemochromatosis, to limit the toxic effects of iron overload. In order to maintain the correct homeostasis, several genes are involved in the metabolic pathways of iron, including HFE, FPN (ferroportin) and TF (transferrin). In this study we analyzed the genes HFE, FPN and TF, to assess their possible effects on response to therapy with deferasirox and deferiprone, either as monotherapy or in combination therapy in a cohort of patients with β-thalassemia and sickle cell syndromes.

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Author Biography

Aurelio Maggio, UOC Ematologia per le Malattie Rare del Sangue e degli Organi Ematopoietici, AO Ospedali Riuniti Villa Sofia-Cervello, Palermo
director uoc ematologia per le malattie rare del sangue e degli organi ematopoietici  aor villa sofia-cervello palermo
Published
2014-09-29
Keywords:
chelation therapy, iron overload, β- thalassemia, sickle cell syndromes.
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How to Cite
Renda, M. C., Renda, D., Piazza, A., Calvaruso, G., Fecarotta, E., Giangreco, A., & Maggio, A. (2014). Role of iron metabolism genetic determinants in response to chelation therapy in a cohort of β-thalassemia and sickle cell syndromes Italian patients. Thalassemia Reports, 4(2). https://doi.org/10.4081/thal.2014.2729