Work

HELIOS - WG1 - Molecular research and diagnosis - Survey

Year: 2025

Type: article

Abstract: This record contains the HELIOS Working Group 1 (Molecular Research and Diagnosis) Survey, developed to map current diagnostic practices for hemoglobinopathies at the international level. The survey was designed to collect information from laboratories on methodologies, workflows, and molecular diagnostic approaches used in routine practice. Its purpose is to provide a standardized tool for gathering insights into how hemoglobinopathies are currently diagnosed worldwide, enabling comparisons across regions and helping to identify strengths, gaps, and opportunities for harmonization. The survey forms part of the HELIOS initiative and supports the wider goal of improving global collaboration and advancing best practices in the molecular diagnosis of hemoglobinopathies. This record is part of the HELIOS COST Action CA22119 Zenodo Community

Source: Zenodo (CERN European Organization for Nuclear Research)

DOI: 10.5281/zenodo.17292268

Authors: Traeger-Synodinos, Jan, Stephanou, Coralea

Institutions: National and Kapodistrian University of Athens, Cyprus Institute of Neurology and Genetics

Language: English

Topic: Hemoglobinopathies and Related Disorders

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funder: European Cooperation in Science and Technology