Prevalence and mortality trends of hemoglobinopathies in Italy: a nationwide study

Data on the global burden of hemoglobinopathies, including the thalassemias and sickle cell disease (SCD), are mostly derived from modeling estimates of carrier frequencies and may not necessarily reflect the actual prevalence of clinically significant forms.1-4 Survival data are also limited to select cohorts, which may not represent the entirety of the patient population in the country.5-7 The life expectancy and geographical distribution of the thalassemias and SCD in Italy has changed considerably due to advances in management, patient mobility, and migration fluxes.6,8,9 Here, we present the first nationwide cross-sectional survey to assess the prevalence of hemoglobinopathies in Italy. Survival trends were also compared to the general population using a cohort of patients followed at reference centers for over 50 years.