Sindromi drepanocitiche: studio di fattibilità di strategie di prevenzione e rimodellamento della rete assistenziale in un contesto in evoluzione

Sickle cell disease (SCD) is the first genetic disease in the world and remains largely ignored by the population but also by health professionals. SCD is characterized by a variable clinical expression; however most of the patients are at risk to develop acute and severe complications conducting to a fatal issue. Reliable and accurate epidemiological data is a prerequisite for a cost effective prevention program for inherited disorders, which however, is lacking in a number of developing countries. Here we report the first detailed population study in the Piedmont region, north-west Italy, designed to estimate the frequency and distribution of patients with sickle cell disease, annual number of patients newly diagnosed as having SCD, proportion of the patients receiving a regular care in a comprehensive care setting. This study analyzes the adequacy between the services offered for these patients and the real need in this Italian country. OBJECTIVE: The purpose is to estimate the prevalence of sickle cell disease in the Piedmont region and the need for prevention strategies, to evaluate the feasibility of neonatal screening and to propose a realistic healthcare program. METHODS: The estimate of the SCD prevalence changes between January 1978 and December 2011 in the Piedmont region was based on three regional data sources. All consecutive patients with SCD laboratoristic diagnosis were included and specialistic care was offered. For all patients, the demographic and clinical features and the circumstances of SCD diagnosis were described. The next step was to analyse the current prevention and healthcare program in this country and to evaluate the feasibility of a new specific cost effective program and to improve management of sickle cell disease through early parental education and the institution of prophylaxis against infection. RESULTS: According to information obtained from the regional sources, our results indicate that the prevalence of SCD population was 0,022/1000 in 2011 versus 0,008/1000 in 1991; the SCD distribution is heterogeneous in the region. In the next 10 years, the annual incidence was augmented and the changing patterns of immigration, in particular recent African immigration, led to significant numbers of neonates at risk of sickle cell disease (70% of SCD population has not Italian origin or ethnicity). The current healthcare program assures a good survival and quality of life; the prevention program is not complete and neonatal newborn screening is not available but feasible. CONCLUSIONS: Our results are consistent with a changing of the sickle cell disease epidemiology in the Piedmont region with a specific regional distribution; a paucity of high-quality data limits appropriate estimation. The management of SCD requires a dedicated approach; this study support the notion that the healthcare for hemoglobinopathies can benefit from a specific prevention program as neonatal haemoglobinopathies newborn screening despite the logistic problems and economic constraints. The development of prevention as the same time as specific clinical program is pivotal to improving SCD healthcare in this Italian region.