Emerging Technologies and Advanced Strategies in Hemoglobin Defect Screening

Area of Science:

• Hematology
• Genetics
• Public Health

Background:

• Hemoglobinopathies are prevalent inherited diseases causing significant global mortality and morbidity.
• Primary care screening is crucial for early detection, treatment, and reproductive decision-making.

Purpose of the Study:

• To review practical screening techniques for hemoglobin defects in primary care settings.
• To discuss evolving screening strategies considering regional factors and global migration.

Main Methods:

• Review of recent advances in high-performance liquid chromatography (HPLC).
• Evaluation of capillary zone electrophoresis (CZE), mass spectrometry (MS), and point-of-care testing (POCT).
• Inclusion of molecular methodologies and regional screening approaches.

Main Results:

• Various advanced techniques offer improved accuracy and accessibility for hemoglobinopathy screening.
• Regional strategies highlight the need for context-specific, cost-effective, and equitable approaches.
• Global migration necessitates flexible and adaptable screening frameworks.

Conclusions:

• Effective primary care screening for hemoglobinopathies enhances patient outcomes and population health.
• Tailored and accessible screening methods are essential to address the global burden of these inherited diseases.
• Continuous adaptation of screening strategies is required to meet evolving healthcare needs and population dynamics.