Newborn screening program for hemoglobinopathies in Rio de Janeiro, Brazil

Area of Science:

• Public Health
• Pediatrics
• Hematology

Background:

• Brazil established a National Newborn Hemoglobinopathy Screening Program in 2001.
• The State of Rio de Janeiro initiated a screening program in partnership with HEMORIO.
• The program aimed to identify and manage infants with Sickle Cell Disease (SCD).

Purpose of the Study:

• To evaluate the effectiveness of the first 10 years of the Rio de Janeiro Newborn Hemoglobinopathy Screening Program.
• To assess the program's impact on identifying and managing infants with SCD.
• To compare mortality rates before and after program implementation.

Main Methods:

• High-Performance Liquid Chromatography (HPLC) was used to analyze blood samples from 1,217,833 neonates.
• Infants diagnosed with SCD were enrolled in comprehensive treatment programs.
• Geographic coverage of the screening program within the state was monitored.

Main Results:

• 4.87% of newborns had a hemoglobin variant; 0.08% had homozygous or doubly heterozygous abnormal hemoglobins.
• 912 newborns were diagnosed with SCD and referred for treatment.
• Mortality in SCD infants was 3.7% due to complications; 4 died from unknown causes.

Conclusions:

• The 10-year screening program demonstrated a reduction in mortality for patients with SCD compared to historical data.
• Early diagnosis and treatment of newborns with SCD are linked to improved survival.
• The program contributes to a better quality of life for Brazilian children with SCD.