Clinical Research Directory

Neonatal Screening for Haemoglobinopathies EmoCamp

Sponsor: Maddalena Casale

Summary

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.

Official title: SCREENING EmoCamp_ Analysis of Major Haemoglobinopathies Among Newborns in the Campania Region

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