Correlation between phenotype and genotype in a large unselected cohort of children with severe hemophilia A

Autor: Manuel D. Carcao, H. Marijke van den Berg, Rolf Ljung, Maria Elisa Mancuso, C Altisent, G Auerswald, E Chalmers, H Chambost, A Cid, S Claeyssens, N Clausen, K Fischer, Van Creveld Kliniek, Ch van Geet, K Peerlinck, R Kobelt, W Kreuz, C Escuriola, K Kurnik, R Liesner, R Ljung, A Mäkipernaa, A Molinari, W Muntean, J Oldenburg, R Pérez Garrido, P Petrini, H Platokouki, A Rafowicz, E Santagostino, ME Mancuso, A Thomas, M Williams, SC Gouw, HM van den Berg, G Kenet, M Carcao, G Rivard

Publikováno v: Blood. 121(19)

Phenotypic variability is well recognized in severe hemophilia A. A few studies, mainly in adults treated lifelong on demand, suggest that bleeding phenotype correlates with factor VIII gene (F8) mutation type. Because treatment regimens influence ou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::508ff3e269c64dd0a27fb7f14b4ef016
https://pubmed.ncbi.nlm.nih.gov/23660857

Prediction of the chance of successful immune tolerance induction in persons with severe hemophilia A and inhibitors: a clinical prediction model.

Autor: Oomen I; Department of Pediatric Hematology, Amsterdam University Medical Centers location University of Amsterdam, Amsterdam, the Netherlands.; Department of Molecular Hematology, Sanquin Research, Amsterdam, the Netherlands., Abdi A; Department of Pediatric Hematology, Amsterdam University Medical Centers location University of Amsterdam, Amsterdam, the Netherlands., Camelo RM; Department of Internal Medicine, Faculty of Medicine, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Callado FMRA; Fundação de Hematologia e Hemoterapia de Pernambuco, Recife, Brazil., Carvalho LEM; Centro de Hematologia e Hemoterapia do Ceará, Fortaleza, Brazil., Calcaterra IL; Department of Clinical Medicine and Surgery, Federico II University, Naples, Italy., Carcao M; Department of Pediatrics, Division of Hematology and Oncology, Hospital for Sick Children, Toronto, Ontario, Canada., Castaman G; Department of Oncology, Center for Bleeding Disorders and Coagulation, Careggi University Hospital, Florence, Italy., Eikenboom JCJ; Department of Internal Medicine, Division of Thrombosis and Hemostasis, Leiden University Medical Center, Leiden, the Netherlands., Fischer K; Department of Hematology, Center for Benign Hematology, Thrombosis and Hemostasis, Van Creveldkliniek, University Medical Center Utrecht, Utrecht, the Netherlands., Franco VKB; Centro de Hematologia e Hemoterapia de Santa Catarina, Florianópolis, Brazil., Heymans MW; Department of Epidemiology and Biostatistics, Amsterdam University Medical Centers, Vrije Universiteit University, Amsterdam, the Netherlands.; Department of Epidemiology and Data Science, Amsterdam Public Health Research Institute, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., Leebeek FWG; Department of Hematology, Erasmus University Medical Center, Rotterdam, the Netherlands., Lillicrap D; Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada., Lorenzato CS; Coagulopathy Clinic, Hemocentro do Paraná, Curitiba, Brazil., Mancuso ME; Department of Hematology, Center for Thrombosis and Hemorrhagic Diseases, Instituto di Ricovero e Cura a Carattere Scientifico Humanitas Research Hospital, Rozzano, Milan, Italy., Matino D; Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, Ontario, Canada., Di Minno MND; Department of Clinical Medicine and Surgery, Federico II University, Naples, Italy., Mohseny AB; Department of Pediatrics, Leiden University Medical Center, Leiden, the Netherlands., Oldenburg J; Institute of Experimental Hematology and Transfusion Medicine, University Hospital Bonn, Medical Faculty, University of Bonn, Bonn, Germany., Rezende SM; Department of Internal Medicine, Faculty of Medicine, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Rivard GE; Molecular Diagnostic Laboratory, Centre Hospitalier Universitaire Sainte-Justine, Montréal, Québec, Canada.; Department of Pediatrics, Division of Hematology-Oncology, Montréal University, Centre Hospitalier Universitaire Sainte-Justine, Montréal, Québec, Canada., Rydz N; Department of Hematology and Hematologic Malignancies, Foothills Medical Center, Calgary, Alberta, Canada., Schols SEM; Department of Hematology, Radboud University Medical Center, Nijmegen, the Netherlands.; Hemophilia Treatment Center Nijmegen-Eindhoven-Maastricht, Nijmegen, the Netherlands., Voorberg J; Department of Molecular Hematology, Sanquin Research, Amsterdam, the Netherlands., Fijnvandraat K; Department of Pediatric Hematology, Amsterdam University Medical Centers location University of Amsterdam, Amsterdam, the Netherlands.; Department of Molecular Hematology, Sanquin Research, Amsterdam, the Netherlands., Gouw SC; Department of Pediatric Hematology, Amsterdam University Medical Centers location University of Amsterdam, Amsterdam, the Netherlands.

Publikováno v: Research and practice in thrombosis and haemostasis [Res Pract Thromb Haemost] 2024 Oct 03; Vol. 8 (7), pp. 102580. Date of Electronic Publication: 2024 Oct 03 (Print Publication: 2024).

Sexual functioning in men with haemophilia: Data from the haemophilia in the Netherlands-6 study.

Autor: van Gastel TCM; Amsterdam UMC Location University of Amsterdam, Emma Children's Hospital, Child and Adolescent Psychiatry & Psychosocial Care, Amsterdam, The Netherlands.; Amsterdam Public Health, Mental Health and Health Behaviors & Chronic Diseases, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development, Child Development, Amsterdam, The Netherlands., Teela L; Amsterdam UMC Location University of Amsterdam, Emma Children's Hospital, Child and Adolescent Psychiatry & Psychosocial Care, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development, Child Development, Amsterdam, The Netherlands.; Amsterdam Public Health, Mental Health and Digital Health, Amsterdam, The Netherlands., Mauser-Bunschoten EP; University Medical Centre Utrecht, Centre for Benign Haematology Thrombosis and Haemostasis Van Creveldkliniek, Utrecht, The Netherlands., Coppens M; Amsterdam Cardiovascular Sciences, Department of Vascular Medicine, Amsterdam, The Netherlands., Peters M; Amsterdam UMC Location University of Amsterdam, Emma Children's Hospital, Paediatric Haematology, Amsterdam, The Netherlands., Fijnvandraat KCJ; Amsterdam UMC Location University of Amsterdam, Emma Children's Hospital, Paediatric Haematology, Amsterdam, The Netherlands., Haverman L; Amsterdam UMC Location University of Amsterdam, Emma Children's Hospital, Child and Adolescent Psychiatry & Psychosocial Care, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development, Child Development, Amsterdam, The Netherlands.; Amsterdam Public Health, Mental Health and Digital Health, Amsterdam, The Netherlands., Gouw SC; Amsterdam UMC Location University of Amsterdam, Emma Children's Hospital, Paediatric Haematology, Amsterdam, The Netherlands.

Publikováno v: Haemophilia : the official journal of the World Federation of Hemophilia [Haemophilia] 2024 Sep; Vol. 30 (5), pp. 1243-1246. Date of Electronic Publication: 2024 Aug 07.

Psychometrics of patient-reported outcomes measurement information system in von Willebrand disease, inherited platelet function disorders, and rare bleeding disorders.

Autor: van Hoorn ES; Department of Public Health, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Willems SPE; Department of Hematology, Radboud university medical center Nijmegen, Hemophilia Treatment Center Nijmegen-Eindhoven-Maastricht, Nijmegen, The Netherlands., Al Arashi W; Department of Pediatric Hematology, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands., de Moor AS; Center for Benign Hematology, Thrombosis and Hemostasis, Van Creveldkliniek University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van Kwawegen CB; Department of Hematology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Teela L; Child and Adolescent Psychiatry & Psychosocial Care, Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; Public Health, Mental Health and Digital Health, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; Reproduction and Development, Child Development, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands., Oude Voshaar MAH; Department of Public Health, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Kremer Hovinga ICL; Center for Benign Hematology, Thrombosis and Hemostasis, Van Creveldkliniek University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Schutgens REG; Center for Benign Hematology, Thrombosis and Hemostasis, Van Creveldkliniek University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Schols SEM; Department of Hematology, Radboud university medical center Nijmegen, Hemophilia Treatment Center Nijmegen-Eindhoven-Maastricht, Nijmegen, The Netherlands., Leebeek FWG; Department of Hematology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Haverman L; Child and Adolescent Psychiatry & Psychosocial Care, Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; Public Health, Mental Health and Digital Health, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; Reproduction and Development, Child Development, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands., Cnossen MH; Department of Pediatric Hematology, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands., Gouw SC; Pediatric Hematology, Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands., Lingsma HF; Department of Public Health, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

Publikováno v: Research and practice in thrombosis and haemostasis [Res Pract Thromb Haemost] 2024 Jun 13; Vol. 8 (4), pp. 102474. Date of Electronic Publication: 2024 Jun 13 (Print Publication: 2024).

The spectrum of neutralizing and non-neutralizing anti-FVIII antibodies in a nationwide cohort of 788 persons with hemophilia A.

Autor: Oomen I; Department of Pediatric Hematology, Amsterdam University Medical Center (UMC) Location University of Amsterdam, Amsterdam, Netherlands.; Department of Molecular Hematology, Sanquin Research, Amsterdam, Netherlands., Verhagen M; Department of Hematology, Radboud University Medical Center, Nijmegen, Netherlands.; Hemophilia Treatment Center Nijmegen-Eindhoven-Maastricht, Nijmegen, Netherlands.; Laboratory of Hematology, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Miranda M; Department of Molecular Hematology, Sanquin Research, Amsterdam, Netherlands., Allacher P; Institute Krems Bioanalytics, International Management Center (IMC) University of Applied Sciences Krems, Krems, Austria., Beckers EAM; Division of Hematology, Department of Internal Medicine, Maastricht University Medical Center, Maastricht University, Maastricht, Netherlands., Blijlevens NMA; Department of Hematology, Radboud University Medical Center, Nijmegen, Netherlands.; Hemophilia Treatment Center Nijmegen-Eindhoven-Maastricht, Nijmegen, Netherlands., van der Bom JG; Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, Netherlands., Coppens M; Department of Vascular Medicine, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centers, Location University of Amsterdam, Amsterdam, Netherlands., Driessens M; Dutch Society of Hemophilia Patients, Leiden, Netherlands., Eikenboom JCJ; Division of Thrombosis and Hemostasis, Department of Internal Medicine, Leiden University Medical Center, Leiden University, Leiden, Netherlands., Fijnvandraat K; Department of Pediatric Hematology, Amsterdam University Medical Center (UMC) Location University of Amsterdam, Amsterdam, Netherlands.; Department of Molecular Hematology, Sanquin Research, Amsterdam, Netherlands., Hassan S; Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, Netherlands.; Infectious Diseases Data Observatory, Center for Tropical Medicine and Global Health, University of Oxford, Oxford, United Kingdom., van Heerde WL; Department of Hematology, Radboud University Medical Center, Nijmegen, Netherlands.; Hemophilia Treatment Center Nijmegen-Eindhoven-Maastricht, Nijmegen, Netherlands.; Enzyre BV, Nijmegen, Netherlands., Hooimeijer HL; Division of Hematology/Oncology, Department of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands., Jansen JH; Laboratory of Hematology, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Kaijen P; Department of Molecular Hematology, Sanquin Research, Amsterdam, Netherlands., Leebeek FWG; Department of Hematology, Erasmus University Medical Center, Rotterdam, Netherlands., Meijer D; Laboratory of Hematology, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Paul H; Institute Krems Bioanalytics, International Management Center (IMC) University of Applied Sciences Krems, Krems, Austria., Rijpma SR; Laboratory of Hematology, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Rosendaal FR; Division of Thrombosis and Hemostasis, Department of Internal Medicine, Leiden University Medical Center, Leiden University, Leiden, Netherlands., Smit C; Department of Vascular Medicine, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centers, Location University of Amsterdam, Amsterdam, Netherlands.; Division of Thrombosis and Hemostasis, Department of Internal Medicine, Leiden University Medical Center, Leiden University, Leiden, Netherlands., van Vulpen LFD; Center for Benign Hematology, Thrombosis and Haemostasis, Van Creveldkliniek, University Medical Center Utrecht, University Utrecht, Utrecht, Netherlands., Voorberg J; Department of Molecular Hematology, Sanquin Research, Amsterdam, Netherlands.; Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, Netherlands., Schols SEM; Department of Hematology, Radboud University Medical Center, Nijmegen, Netherlands.; Hemophilia Treatment Center Nijmegen-Eindhoven-Maastricht, Nijmegen, Netherlands., Gouw SC; Department of Pediatric Hematology, Amsterdam University Medical Center (UMC) Location University of Amsterdam, Amsterdam, Netherlands.; Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, Netherlands.

Publikováno v: Frontiers in immunology [Front Immunol] 2024 Feb 22; Vol. 15, pp. 1355813. Date of Electronic Publication: 2024 Feb 22 (Print Publication: 2024).