Factor VIII gene (F8) mutation and risk of inhibitor development in nonsevere hemophilia A-Reference-Cited by-同舟云学术

Factor VIII gene (F8) mutation and risk of inhibitor development in nonsevere hemophilia A

Published:2013-09-12 Issue:11 Volume:122 Page:1954-1962
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Eckhardt Corien L.¹,van Velzen Alice S.¹,Peters Marjolein¹,Astermark Jan²,Brons Paul P.³,Castaman Giancarlo⁴,Cnossen Marjon H.⁵,Dors Natasja⁶,Escuriola-Ettingshausen Carmen⁷,Hamulyak Karly⁸,Hart Daniel P.⁹,Hay Charles R. M.¹⁰,Haya Saturnino¹¹,van Heerde Waander L.³,Hermans Cedric¹²,Holmström Margareta¹³,Jimenez-Yuste Victor¹⁴,Keenan Russell D.¹⁵,Klamroth Robert¹⁶,Laros-van Gorkom Britta A. P.³,Leebeek Frank W. G.⁵,Liesner Ri¹⁷,Mäkipernaa Anne¹⁸,Male Christoph¹⁹,Mauser-Bunschoten Evelien²⁰,Mazzucconi Maria G.²¹,McRae Simon²²,Meijer Karina²³,Mitchell Michael²⁴,Morfini Massimo²⁵,Nijziel Marten²⁶,Oldenburg Johannes²⁷,Peerlinck Kathelijne²⁸,Petrini Pia¹³,Platokouki Helena²⁹,Reitter-Pfoertner Sylvia E.¹⁹,Santagostino Elena³⁰,Schinco Piercarla³¹,Smiers Frans J.³²,Siegmund Berthold³³,Tagliaferri Annarita³⁴,Yee Thynn T.³⁵,Kamphuisen Pieter Willem¹,van der Bom Johanna G.³²³⁶,Fijnvandraat Karin¹

Affiliation:

1. Academic Medical Center, Amsterdam, The Netherlands;

2. Skåne University Hospital, Malmö, Sweden;

3. Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands;

4. San Bortolo Hospital, Vicenza, Italy;

5. Erasmus University Medical Center, Rotterdam, The Netherlands;

6. Catharina Hospital, Eindhoven, The Netherlands;

7. JW Goethe University Hospital, Frankfurt, Germany;

8. Maastricht University Medical Centre, Maastricht, The Netherlands;

9. Royal London Hospital, Barts and The London School of Medicine and Dentistry, London, United Kingdom;

10. Manchester Royal Infirmary, Manchester, United Kingdom;

11. University Hospital la Fe, Valencia, Spain;

12. Saint-Luc University Hospital, Brussels, Belgium;

13. Karolinska University Hospital, Stockholm, Sweden;

14. University Hospital La Paz and Autonoma University, Madrid, Spain;

15. Alderhey Children's Hospital, Liverpool, United Kingdom;

16. Vivantes Klinikum im Friedrichshain, Berlin, Germany;

17. Great Ormond Street National Health Service Trust, London, United Kingdom;

18. Children’s Hospital, Helsinki University Central Hospital, Helsinki, Finland;

19. Medical University of Vienna, Vienna, Austria;

20. University Medical Center Utrecht, Utrecht, The Netherlands;

21. Sapienza University of Rome, Rome, Italy;

22. Royal Adelaide Hospital, Adelaide, Australia;

23. University Medical Center Groningen, Groningen, The Netherlands;

24. Guy’s and St. Thomas’ National Health Service Foundation Trust, London, United Kingdom;

25. Azienda University Hospital Careggi, Florence, Italy;

26. Maxima Medical Center, Eindhoven/Veldhoven, The Netherlands;

27. University Clinic of Bonn, Bonn, Germany;

28. University of Leuven, Leuven, Belgium;

29. Aghia Sofia Children's Hospital, Athens, Greece;

30. Ospedale Maggiore Policlinico, Fondazione Istituto Di Ricovero e Cura a Carattere Scientifico Ca’ Granda, Milan, Italy;

31. San Giovanni Battista “Molinette” Hospital, Turin, Italy;

32. Leiden University Hospital, Leiden, The Netherlands;

33. Raphaelsklinik, Munster, Germany;

34. University Hospital of Parma, Parma, Italy;

35. Royal Free Hospital, London, United Kingdom; and

36. Sanquin Research, Leiden, The Netherlands

Abstract

Key Points The inhibitor incidence in nonsevere hemophilia A patients with certain F8 mutations approaches the inhibitor incidence in severe patients. These findings are highly relevant for clinical practice, as they facilitate identification of high-risk patients based on F8 genotype.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/122/11/1954/1330736/1954.pdf

Reference31 articles.

1. The epidemiology of inhibitors in haemophilia A: a systematic review.;Wight;Haemophilia,2003

2. Diagnosis and management of haemophilia.;Fijnvandraat;BMJ,2012

3. Cost of care of haemophilia with inhibitors.;Di Minno;Haemophilia,2010

4. Factor VIII inhibitors in mild and moderate-severity haemophilia A.;Hay;Thromb Haemost,1998

5. Factor VIII genotype and inhibitor development in patients with haemophilia A: highest risk in patients with splice site mutations.;Boekhorst;Haemophilia,2008

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