National neonatal screening program for hemoglobinopathies: how far have we advanced?

Abstract

Thanks to the efforts of Dr. Robert Guthrie at the beginning of the sixties, neonatal screening has become a true diagnostic tool for diseases that, if not detected early, can result in important complications to the health of the child.1 Today, neonatal screening represents one of the main advances in the prevention of pediatric diseases, and is based on diagnosing pathologies that are relatively frequent and severe, that can be detected by methods that are simple, efficient and adaptable to large-scale application, and that can be treated to substantially modify the course of the disease.2 In Brazil, neonatal screening was first initiated by professor Benjamin Schmidt in 1976, but for a long time, there was no investment in or commitment to the treatment and followup of screened children.3,4 After 2001, the Ministry of Health, through the Bill #822/GM, instituted the National Neonatal Screening Program (NNSP)5 in the public healthcare system, incorporating the principles of neonatal screening: universal access to early diagnosis, and intervention in the disease with the use of therapies and interdisciplinary care, mandating a hierarchy of responsibilities and competencies at the federal, state and municipal levels. Sickle cell disease and other hemoglobinopathies were included in the NNSP,5 allowing the adoption of prophylactic measures and complete treatment of children with these diseases before the development of clinical complications, thereby having an impact on morbidity and mortality.6–12 Screening should be considered a public health service with universal access and monitoring of screened individuals.