Newborn Screening Program for Hemoglobinopathies in Rio de Janeiro, Brazil

作者：de Castro Lobo Clarisse Lopes; Ballas Samir K; Bonini Domingos Ana Carolina; Moura Patricia G; do Nascimento Emilia Matos; Cardoso Gilberto Perez; Farias de Carvalho Silvia Maia

来源：Pediatric Blood and Cancer, 2014, 61(1): 34-39.

DOI：10.1002/pbc.24711

• hemoglobinopathy
• newborn screening
• sickle cell anemia
• sickle cell disease

BackgroundNewborn screening for hemoglobinopathy in Brazil has been decentralized until 2001 when the Health Ministry of Brazil established the National Newborn Hemoglobinopathy Screening Program. The State of Rio de Janeiro started a program in collaboration with the State Health Department and the Institute of Hematology in Rio (HEMORIO). The goal of this study was to evaluate the effectiveness of the first 10 years of the Newborn Hemoglobinopathy Screening Program in identifying and managing infants with Sickle cell disease (SCD) in the State of Rio de Janeiro.
ProcedureBlood samples from 1,217,833 neonates were analyzed by High Performance Liquid Chromatography. Infants with SCD were enrolled in comprehensive treatment programs.
ResultsData showed that 4.87% of the newborns were heterozygous for a hemoglobin variant, 0.08% were homozygous or doubly heterozygous for abnormal hemoglobins and 95.02% had normal hemoglobin. All the 912 newborns with SCD were referred for treatment at HEMORIO, 34 (3.7%) of these died due to acute chest syndrome, sepsis or splenic sequestration. Four more children died of unknown causes. The implementation of the Rio de Janeiro Newborn Screening Program gradually increased the area of the State covered by the program.
ConclusionData collected during the 10 years of the program showed reduction in mortality of patients with SCD in comparison to available historical statistical data before the implementation of the national screening program. This 10-year study showed that early diagnosis and treatment of newborns was associated with improved survival and quality of life of Brazilian children with SCD. Pediatr Blood Cancer 2014;61:34-39.

• 出版日期2014-1