Mapping diagnostic practices in hemoglobinopathies: a cross-country HELIOS COST Action study

Area of Science:

• Medical Genetics
• Hematology
• Public Health

Background:

• Hemoglobinopathies are the most common monogenic diseases globally.
• Increasing prevalence in Europe necessitates improved public health strategies.
• Variations in diagnostic policies and lab methods across Europe impact equitable patient care.

Purpose of the Study:

• To assess current screening and diagnostic practices for hemoglobinopathies in Europe.
• To identify gaps and priorities in laboratory methodologies and policies.
• To inform strategies for harmonizing care and improving diagnostic capabilities.

Main Methods:

• A cross-sectional online survey was distributed to participants of the COST Action HELIOS network.
• The survey collected data on hematological methods, molecular diagnostics, and laboratory policies from 38 centers in 20 European countries.
• Data were summarized using descriptive statistics, tables, and maps.

Main Results:

• Hematology-based methods are central to hemoglobinopathy diagnosis.
• DNA testing is common, but advanced genomics applications are limited.
• Newborn screening (NBS) for sickle cell disease (SCD) and thalassemia is widespread.
• Carrier reporting practices differ significantly between centers.
• Genetic modifier testing is an emerging area.

Conclusions:

• Significant opportunities exist for cross-country collaboration and capacity building in Europe.
• Targeted interventions can strengthen diagnostic capabilities and harmonize protocols.
• Sharing expertise and resources can support the broader implementation of best practices for hemoglobinopathies.