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

Hemoglobinopathies comprise the most common monogenic diseases worldwide. In Europe, formerly low-prevalence regions have seen increasing numbers of carriers and patients, with important public health implications. Implementation of policies and laboratory methodologies varies across countries, affecting equitable care. This study aimed to provide a snapshot of current screening and diagnostic practices and to identify gaps and priorities. A cross-sectional online survey was conducted from May to October 2024 across the COST (European Cooperation in Science and Technology) Action Haemoglobinopathies in European Liaison of Medicine and Science network participants. The survey, including 21 questions, covered hematological methods, molecular diagnostics, and laboratory practices and policies. Responses were provided directly by centers and summarized descriptively in tables and maps. Responses were received from 38 centers in 20 countries. Hematology remains the diagnostic backbone for hemoglobinopathies, DNA-based testing is widely adopted although advanced genomics are limited, newborn screening is implemented widely for sickle cell disease and thalassemia, carrier reporting practices vary, and genetic modifier testing is emerging. The findings highlight opportunities for cross-country collaboration and targeted capacity building, identifying centers that could benefit from shared expertise and resources. These findings can guide strategies to harmonize protocols, strengthen diagnostic capabilities, and support broader implementation of best practices across Europe.