Evaluation of neonatal screening program for hemoglobinopathies in São Carlos, SP

• Grant number: 12/20768-8
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: February 01, 2013
• End date: January 31, 2014
• Field of knowledge: Health Sciences - Collective Health - Public Health
• Principal Investigator: Débora Gusmão Melo
• Grantee: Camila de Azevedo Silva
• Host Institution: Centro de Ciências Biológicas e da Saúde (CCBS). Universidade Federal de São Carlos (UFSCAR). São Carlos , SP, Brazil

Abstract

The hemoglobinopathies are a heterogeneous group of inherited diseases, including sickle cell disease and thalassemia, characterized by changes in the structure or synthesis of hemoglobin. In Brazil, it is estimated birth than 700,000 annual cases of sickle cell disease and it is believed that 10 to 20% of the population is alpha thalassemia silent carrier. In this context, neonatal screening for hemoglobinopathies is important, because it is the only form of early diagnosis and treatment of these pathologies. In 2001, the Ministry of Health created the National Newborn Screening (PNTN), including hemoglobinopathies in SUS, nationwide. In proposing neonatal screening, the health system should seek an optimal coverage of 100%, allow diagnostic confirmation of newborns whose screening is changed, and provide treatment for patients and family genetic counseling, because without it, the benefits obtained by early identification are not perpetuated. In São Carlos, coverage PNTN is high (95% in 2007) and each year about 90 children have any variation in neonatal screening for hemoglobinopathies, but there is no systematic information on how is the handling of situations in which the outcome of screening is abnormal. This project aims to assess the PNTN in São Carlos, by analyzing the management performed in situations whose outcome of neonatal screening for hemoglobinopathies was abnormal in the years 2010 and 2011. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

CAMILA DE AZEVEDO SILVA; LETÍCIA BOTIGELI BALDIM; GEIZA CÉSAR NHONCANSE; ISABETH DA FONSECA ESTEVÃO; DÉBORA GUSMÃO MELO. Triagem neonatal de hemoglobinopatias no município de São Carlos, São Paulo, Brasil: análise de uma série de casos. Revista Paulista de Pediatria, v. 33, n. 1, p. 19-27, 2015-03-00. (12/20768-8)