Current challenges in the management of patients with sickle cell disease - A report of the Italian experience

Giovanna Russo, Lucia De Franceschi, Raffaella Colombatti, Paolo Rigano, Silverio Perrotta, Vincenzo Voi, Giovanni Palazzi, Carmelo Fidone, Alessandra Quota, Giovanna Graziadei, Antonello Pietrangelo, Valeria Pinto, Giovan Battista Ruffo, Francesco Sorrentino, Donatella Venturelli, Maddalena Casale, Francesca Ferrara, Laura Sainati, Maria Domenica Cappellini, Antonio PigaAurelio Maggio, Gian Luca Forni

Research output: Contribution to journalArticlepeer-review

Abstract

Sickle cell disease (SCD) is an inherited red blood cell disorder caused by a structural abnormality of hemoglobin called sickle hemoglobin (HbS). Clinical manifestations of SCD are mainly characterized by chronic hemolysis and acute vaso-occlusive crisis, which are responsible for severe acute and chronic organ damage. SCD is widespread in sub-Saharan Africa, in the Middle East, Indian subcontinent, and some Mediterranean regions. With voluntary population migrations, people harboring the HbS gene have spread globally. In 2006, the World Health Organization recognized hemoglobinopathies, including SCD, as a global public health problem and urged national health systems worldwide to design and establish programs for the prevention and management of SCD. Herein we describe the historical experience of the network of hemoglobinopathy centers and their approach to SCD in Italy, a country where hemoglobinopathies have a high prevalence and where SCD, associated with different genotypes including ß-thalassemia, is present in the native population.

Original languageEnglish
Article number120
JournalOrphanet Journal of Rare Diseases
Volume14
Issue number1
DOIs
Publication statusPublished - May 30 2019

Keywords

  • Hemoglobin disorder
  • Hemoglobinopathy
  • Hydroxyurea
  • Migrants
  • Sickle cell disease
  • Sickle cell screening
  • Transfusion
  • Vaso-occlusion crisis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pharmacology (medical)

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