Anemia a cellule falciformi e sindromi correlate: aggiornamenti e prospettive

The presence of hemoglobin S (HbS) in blood is responsible for sickle cell disease when its concentration, for the presence of two copies of HbS gene or one copy of HbS plus another β-globin variant (such as hemoglobin C or β-thalassemia), is markedly increased. In this report, we reviewed some recent epidemiological data on the disease prevalence, we discussed pre-analytical as well analytical aspects, relevant to the correct measurement of HbS in blood, and we summarized some important aspects for the management of the sickling crises and for the current and future therapy of this disease.