Newborn Screening for SCD in the USA and Canada

Area of Science:

• Hematology
• Genetics
• Public Health

Background:

• Sickle cell disease (SCD) is an inherited disorder affecting red blood cells due to abnormal hemoglobin (Hb S).
• Universal newborn screening (NBS) programs are crucial for early detection of SCD in the US and Canada.
• NBS for SCD represents a significant public health achievement in North America.

Purpose of the Study:

• To review the historical development of NBS for SCD in the US and Canada.
• To outline the current approaches and methodologies used in these screening programs.
• To provide an overview of screening techniques for hemoglobinopathies, influenced by North American experiences.

Main Methods:

• Review of historical data and current practices in NBS programs for SCD.
• Analysis of screening algorithms, laboratory procedures, and follow-up protocols.
• Examination of variations and commonalities in NBS workflows across different regions.

Main Results:

• NBS for SCD is implemented in all US states and Canadian provinces.
• Screening techniques and program structures show regional variations but share a common workflow.
• North American NBS experiences significantly influence global approaches to hemoglobinopathy screening.

Conclusions:

• Newborn screening is a cornerstone for managing sickle cell disease.
• Standardized yet adaptable NBS protocols are essential for effective early detection.
• Continued evaluation and refinement of NBS programs are vital for public health outcomes.