SICKLE CELL DISEASE

Key words: Sickle cell disease, Diagnosis, Clinical features, Management

Sickle cell disease (SCD) is one of the most prevalent haemoglobinopathies in the world, being related to areas where malaria is or was endemic. In Italy the majority of patients still live in Sicily, where the overall HbS gene frequency is 2%. Domestic migration and recent immigration from foreign countries, in particular from Africa, has contributed to the further diffusion of SCD in Central and Northern Italy. With the global scope of SCD, paediatricians need to be familiar with the knowledge of its clinical presentations and treatment. Much progress has been made during the past decades in understanding its natural history and management. This review addresses the current knowledge on SCD epidemiology, pathophysiology, diagnosis, clinical features, prognosis, treatment and prevention. Guidelines of the management of its most serious complications, as acute chest syndrome, stroke, priapism, pain episodes and indication to transfusion therapy, hydroxyurea, bone marrow transplantation are discussed.