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Mild or moderate hemophilia is not always a mild or moderate bleeding disorder: Back to the clinical phenotype
Indexado
WoS WOS:001451298300001
Scopus SCOPUS_ID:105000851166
DOI 10.1002/HEM3.70111
Año 2025
Tipo artículo de investigación

Citas Totales

Autores Afiliación Chile

Instituciones Chile

% Participación
Internacional

Autores
Afiliación Extranjera

Instituciones
Extranjeras


Abstract



In a previous paper, a comprehensive clinicopathologic approach to mild and moderate bleeding disorders (MBD) was proposed by an international working group (IWG) as a part of a project promoted by the European Hematology Association (EHA) on the development of guidelines on the various MBDs. A single pre-diagnosis grade 4 bleeding event according to the ISTH-BAT scale or a comparable event after diagnosis was considered sufficient to classify a patient as affected by a severe bleeding disorder (SBD). In this article, the original IWG integrated by experts and patients' representatives proposed by the European Haemophilia Consortium (EHC) and European Association of Haemophilia and Allied Disorders (EAHAD) applied these criteria to mild and moderate hemophilia A and B to establish the proportion of cases that would be reclassified as SBD taking into account bleeding phenotype, thus improving over the current classification based exclusively on basal factor VIII or IX level. To this aim, publications of unselected cases with bleeding history available from birth to the time of publication were considered to estimate the incidence of a first severe bleeding event. More than 20% of cases with mild or moderate hemophilia met the criteria for SBD by experiencing joint or non-joint severe bleeding events. Furthermore, a significant proportion of patients developed an inhibitor against factor VIII or IX. These results, based on a rigorous methodologic approach, substantiate the criticism of the current classification of hemophilia and argue for the adoption of a new classification that takes into account bleeding phenotype in addition to basal clotting activity.

Revista



Revista ISSN
2572-9241

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Disciplinas de Investigación



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Scopus
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SciELO
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Publicaciones WoS (Ediciones: ISSHP, ISTP, AHCI, SSCI, SCI), Scopus, SciELO Chile.

Colaboración Institucional



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Autores - Afiliación



Ord. Autor Género Institución - País
1 Rodeghiero, Francesco - San Bortolo Hosp - Italia
Ospedale San Bortolo - Italia
2 Ghiotto, Lisanna - San Bortolo Hosp - Italia
Ospedale San Bortolo - Italia
3 Pontalto, Luca - San Bortolo Hosp - Italia
Ospedale San Bortolo - Italia
4 Casini, Alessandro - Univ Geneva - Suiza
Hôpitaux universitaires de Genève - Suiza
5 Castaman, Giancarlo - Careggi Univ Hosp - Italia
Azienda Ospedaliera Careggi - Italia
6 Abdul-Kadir, Rezan - UCL - Reino Unido
University College London - Reino Unido
7 Berntorp, Erik - Lund Univ - Suecia
Institutionen för Translationell Medicin - Suecia
8 Bodo, Imre - Semmelweis Univ - Hungría
Semmelweis Egyetem - Hungría
9 Degenaar-Dujardin, Manon - European Haemophilia Consortium - Bélgica
10 Fijnvandraat, Karin - Univ Amsterdam - Países Bajos
Sanquin Res & Landsteiner Lab - Países Bajos
Emma Kinderziekenhuis - Países Bajos
Sanquin Research - Países Bajos
11 Gresele, Paolo - UNIV PERUGIA - Italia
Università degli Studi di Pavia - Italia
12 Key, Nigel S. - Univ North Carolina - Estados Unidos
UNC School of Medicine - Estados Unidos
13 Lassila, Riitta - Univ Helsinki - Finlandia
Helsinki University Hospital - Finlandia
14 Leebeek, Frank W. G. - Erasmus Univ - Países Bajos
Erasmus MC - Países Bajos
15 Lillicrap, David - Queens Univ - Canadá
Queen's University, School of Medicine - Canadá
16 Makris, Mike - UNIV SHEFFIELD - Reino Unido
The University of Sheffield - Reino Unido
17 Meijer, Stephan - Nederlandse Vereniging Hypothecair Planners NVHP - Países Bajos
Nederlandse Vereniging van Hypothecair Planners (NVHP) – for everyone with a congenital bleeding disorder - Países Bajos
18 Mezzano, Diego - Pontificia Universidad Católica de Chile - Chile
19 Noris, Patrizia - Univ Pavia - Italia
Università degli Studi di Pavia - Italia
20 Pabinger, Ingrid - Med Univ Vienna - Austria
Medizinische Universitat Wien - Austria
21 Ragni, Margaret V. - Univ Pittsburgh - Estados Unidos
University of Pittsburgh School of Medicine - Estados Unidos
22 Silva, David - Victoria Eugenia Royal Fdn - España
23 Srivastava, Alok - Christian Med Coll & Hosp - India
Christian Medical College, Vellore - India
24 Tosetto, Alberto - San Bortolo Hosp - Italia
Ospedale San Bortolo - Italia
25 Windyga, Jerzy - Inst Hematol & Transfus Med - Polonia
Institute of Haematology and Transfusion Medicine, Warsaw - Polonia
26 Zieger, Barbara - Univ Freiburg - Alemania
Universitätsklinikum Freiburg - Alemania

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Financiamiento



Fuente
Nemzeti Kutatási Fejlesztési és Innovációs Hivatal
European Hematology Association
European Haemophilia Consortium
European Association for Haemophilia and Allied Disorders (EAHAD)
NFKI
European Association for Haemophilia and Allied Disorders
Hematology Project Foundation

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Agradecimientos



Agradecimiento
This article is part of a project on inherited mild to moderate bleeding disorders (MBD) endorsed by the European Hematology Association (EHA) in collaboration with the European Association for Haemophilia and Allied Disorders (EAHAD) and the European Haemophilia Consortium (EHC).
This study was partially funded by the European Hematology Association (EHA) and the Hematology Project Foundation (Vicenza, Italy). This article is part of a project on inherited mild to moderate bleeding disorders (MBD) endorsed by the European Hematology Association (EHA) in collaboration with the European Association for Haemophilia and Allied Disorders (EAHAD) and the European Haemophilia Consortium (EHC). We thank Claudia Guzzoni for her invaluable secretarial assistance and Lilliana Paganotto for her librarianship service at the Hematology Project Foundation. We thank Attila Szederjesi, whose work was partially supported by grant OTKA-K19_131945 (I. B.) from the Hungarian National Research Development and Innovation Office (NFKI).
We thank Claudia Guzzoni for her invaluable secretarial assistance and Lilliana Paganotto for her librarianship service at the Hematology Project Foundation. We thank Attila Szederjesi, whose work was partially supported by grant OTKA\u2010K19_131945 (I. B.) from the Hungarian National Research Development and Innovation Office (NFKI).

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