Screening for haemoglobin disorders: One size may not fit all

Area of Science:

• Hematology
• Public Health
• Diagnostic Medicine

Background:

• Accurate laboratory screening for sickle cell disease and other haemoglobin disorders is expanding globally.
• Two recent studies highlight diverse approaches to haemoglobinopathy screening in different regions.

Purpose of the Study:

• To evaluate the potential for large-scale newborn screening for sickle cell disease in Mali using rapid diagnostic tests.
• To report on 16 years of experience with the Danish national haemoglobinopathy screening program in a low-prevalence region.

Main Methods:

• Comparative diagnostic performance study of two rapid diagnostic tests (SickleScan® and HemotypeSC®) on cord blood in Mali.
• Retrospective analysis of a national screening program over 16 years in Denmark.

Main Results:

• Encouraging results from both studies suggest the feasibility of tailored screening strategies.
• The studies provide data on the performance of specific diagnostic tests and the long-term outcomes of screening programs.

Conclusions:

• Countries should customize haemoglobinopathy screening programs based on local requirements, available resources, and specific opportunities.
• Successful implementation of screening programs requires adaptation to regional contexts, whether high-prevalence or low-prevalence settings.