Neonatal Screening for Haemoglobinopathies EmoCamp

SCD

SCD, neonatal screening

Hereditary haemoglobin defects defined under the term haemoglobinopathies represent the most frequent congenital diseases worldwide. The proposed observational study is aimed at determining the prevalence of haemoglobinopathies in newborns in the Campania Region. The neonatal screening test will be performed at the birth centers in Campania Region, before the newborn's discharge, at the same time as the sampling for neonatal screening required by law. The main objective of this study is to evaluate the feasibility and impact of the screening programme performed at the birth centers on the earliness of diagnosis and the annual rate of sickle cell anaemia diagnosis in children. The secondary objective is to evaluate the benefits of early diagnosis of SCD in children as measured by two endpoints: * Improved disease management and early initiation of conventional therapy with reduction of complications, potentially fatal; * Difference between costs related to the neonatal screening programme and estimated costs related to conventional screening and treatment resulting from complications that may arise with late diagnosis.

In the first years of life, unrecognised and untreated SCD patients have a high risk of mortality caused mainly by infection, splenic sequestration and stroke; the mortality risk is 1.1% per year in the first 10 years, but peaks in the first 3 years. Screening may be universal or targeted, involving the neonatal population only or different age groups. Early diagnosis of disease and subsequent patient care, with timely initiation of antibiotic prophylaxis, vaccinations and parental education to recognise symptoms or signs of risk, has been shown to be effective in drastically reducing morbidity and mortality. In Italy, newborns are screened at birth and this occasion therefore appears to be the most suitable time to perform the rapid test for the diagnosis of haemoglobinopathies. The required amount of sample, taken from the newborn's heel, corresponds to 2 drops of blood. Subsequently, the blood sample will be blotted onto a special card made of bibula paper and absorbed by it. The card, duly retained by the birth centers, will be sent to the Molecular and Cellular Biology laboratory of the Department of Women, Children and General and Specialist Surgery AOU-- Università degli Studi della Campania 'Luigi Vanvitelli' where the screening test will be performed. In the event of a negative screening test, parents or legal guardians will not be recalled from the centre. In the event of a positive screening test, parents or legal guardians will be called back by the U.O. Paediatric Haematology and Oncology centre of the AOU Luigi Vanvitelli in Naples to continue the diagnostic procedure and the taking into care of the affected subject, according to clinical practice: prescription blood count+ sideremia+ transferrin+ ferritin+ HPLC+ globin genes study. Specifically, the test detects normal haemoglobins (F and A) and the most common haemoglobin variants: S, D, C and E. The screening test makes it possible to anticipate a diagnosis that is often made in emergency situations, sometimes very serious or fatal, and at the same time represents a saving of NHS and SNR resources.

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