Screening for sickle cell disease by point-of-care tests in Italy: pilot study on 1000 at risk children.

Sickle cell disease (SCD) is a global health problem causing premature deaths and preventable severe chronic complications. A priority goal to improve outcomes both in the short and long term is the screening for early diagnosis and access to specialized care. In Italy, as in other countries, no systematic national screening program is available. A regional pilot project was developed with the aim to screen 1000 children at risk of SCD in Italy. Primary care paediatricians received point-of-care tests (POCTs) to detect abnormal haemoglobin (Hb) to be offered to children regularly followed at their own clinics. Children positive to the POCT were referred to the regional paediatric specialized centre for diagnosis confirmation and follow up. Among 1000 at risk children screened, 85 (8,5%) tested positive for an abnormal Hb. HbS trait was reported in 69 (7%) children, HbC trait in 13 (1,3%) and SCD was diagnosed in 3 (0,3% overall; 0,56% in African background) children. African family background was the most affected by sickle mutations and all children with SCD had African ancestry. Only 56/259 (22%) primary care paediatricians invited but 20/21 (95%) reception centres adhered to the pilot screening project.

Conclusions: A screening program for SCD performed by the primary care paediatricians is feasible and relatively easy to organize. SCD affects mainly children with African family background and the scarce adherence of primary care paediatricians, in contrast to the high adhesion of charitable institutions, outlines the need for a mandatory screening for SCD, and improved awareness among health care providers.

What is known: • Sickle Cell Disease (SCD) is a serious global health problem that requires management in specialized centres from the first months of life. • In the absence of neonatal screening for SCD, primary health care settings represent a feasible and costeffective approach for early disease detection.

What is new: • In Italy, screening for SCD performed by primary care pediatricians detected a hemoglobin variant in 8.5% children, with a disease prevalence of 0.3% in the whole population and 0.56% in children with African family background. • The poor adherence of paediatricians to the voluntary screening for SCD highlights the need for legislative interventions and training activities to ensure early diagnosis and rapid access to care for all children affected by SCD.