Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease

Area of Science:

• Genetics
• Hematology
• Public Health

Background:

• Sickle cell disease (SCD) is a significant inherited blood disorder.
• Newborn screening (NBS) programs are crucial for early detection and management of SCD.
• Italy currently lacks a unified national NBS program for SCD, with screening occurring regionally.

Purpose of the Study:

• To evaluate the feasibility of a multicenter pilot program for universal newborn screening of SCD in Northern Italy.
• To assess the effectiveness of High Performance Liquid Chromatography (HPLC) and molecular analysis for SCD detection in newborns.
• To identify technical challenges and propose solutions for establishing a national SCD NBS program.

Main Methods:

• A pilot multicenter newborn screening program was conducted in Padova and Monza, Italy.
• High Performance Liquid Chromatography (HPLC) was used as the initial screening test on dried blood spot samples.
• Molecular analysis of the β-globin gene (HBB) served as the confirmatory test for HPLC-positive or indeterminate results.

Main Results:

• Out of 5439 analyzed samples, 4 newborns (0.07%) were diagnosed with SCD.
• 37 newborns (0.68%) were identified as HbAS carriers, and 21 (0.40%) had other hemoglobinopathies.
• Dried blood spots remained suitable for HPLC and molecular analysis up to sixteen months, and a cut-off for A1 percentage was established.

Conclusions:

• The pilot program demonstrated the potential for universal newborn screening of SCD in Italy.
• Technical issues were identified, requiring resolution for successful implementation of a nationwide SCD NBS program.
• Standardized protocols and regional coordination are essential for developing a comprehensive national SCD screening strategy.