Integrating Next‐Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real‐World Data From Spanish Patients
This study represents the largest analysis of ICFD patients conducted in Spain, providing significant insights into the molecular epidemiology of these disorders. It underscores the critical role of NGS in routine clinical practice while addressing challenges faced by genetic laboratories. The findings highlight a growing shift among haematologists towards integrating genetic studies early in diagnostic workflows alongside phenotypic assessments to enhance the accuracy and efficiency of ICFD diagnosis.
Authors
- Lorena Ramírez (ORCID: https://orcid.org/0000-0003-1792-7390)
- María Falcón‐Rodríguez (ORCID: https://orcid.org/0009-0002-2726-5845)
- Francisco Vidal (ORCID: https://orcid.org/0000-0001-8089-4945)
- José Antonio Rodríguez‐García (ORCID: https://orcid.org/0000-0003-2267-1887)
- C. Marzo-Alonso
- Irene Corrales (ORCID: https://orcid.org/0000-0002-0647-0340)
- Mariana Canaro
- Mario A. Ríos de Paz
- Natàlia Comes
- Carlos Hobeich
- Carmen Altisent
- Nina Borràs (ORCID: https://orcid.org/0000-0001-7909-9995)
- Perla Bandini (ORCID: https://orcid.org/0000-0002-6002-7454)
- Ana Moreto‐Quintana
- Maria‐Fernanda López‐Fernández
- Álvaro Lorenzo‐Vizcaya
- Rafael Parra (ORCID: https://orcid.org/0000-0002-0749-1645)
- Ángela Cortes‐Vidal
Institutions
- Universitat Autònoma de Barcelona (ES)
- Hospital Universitario Insular de Gran Canaria (ES)
- Instituto de Salud Carlos III (ES)
- Hospital Universitari Arnau de Vilanova (ES)
- Hospital Universitario Nuestra Señora de Candelaria (ES)
- Centro de Investigación en Red en Enfermedades Cardiovasculares (ES)
- Complejo Hospitalario Universitario de Santiago (ES)
- Vall d'Hebron Institut de Recerca (ES)
- Centro de Investigación Biomédica en Red (ES)
- Hospital de Cruces (ES)
- Complexo Hospitalario Universitario A Coruña (ES)
- Hospital Universitario Lucus Augusti (ES)
- Banc de Sang i Teixits (ES)
- Hospital Universitario Son Espases (ES)
- Instituto de Investigación Biomédica de A Coruña (ES)
- Complejo Asistencial Universitario de Palencia (ES)
- Universitat de Barcelona (ES)
Publication Details
- Journal
- Haemophilia
- Published
- 2025-06-27
- DOI
- https://doi.org/10.1111/hae.70075
- Citations
- 1
- Primary Topic
- Platelet Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.77
Funders
- Baxalta
- Ministerio de Economía y Competitividad
- Centro de Investigación Biomédica en Red Enfermedades Cardiovasculares
- Instituto de Salud Carlos III
- European Regional Development Fund