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

Giovanna RussoEmail author View ORCID ID profile,
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 Piga,
Aurelio Maggio and
Gian Luca ForniEmail author

Orphanet Journal of Rare Diseases201914:120

https://doi.org/10.1186/s13023-019-1099-0

Received: 20 March 2019
Accepted: 19 May 2019
Published: 30 May 2019

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.