Journal ArticleDOI
Haemophilias A and B.
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TLDR
In the past, men with haemophilia were likely to die in their youth, but with advances in diagnosis, and especially with development of safe and effective treatment, affected individuals can now look forward to a normal life expectancy.About:
This article is published in The Lancet.The article was published on 2003-05-24. It has received 625 citations till now. The article focuses on the topics: Haemophilia & Haemophilia B.read more
Citations
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Journal ArticleDOI
Successful percutaneous coronary intervention in a patient with severe haemophilia A using bivalirudin as the sole procedural anticoagulant
TL;DR: The case of a patient with severe haemophilia A who underwent successful multivessel percutaneous coronary intervention (PCI) suggests that bivalirudin as the sole procedural anticoagulant can be safely used in patients with a very high risk of bleeding undergoing PCI.
Journal ArticleDOI
Major differences in bleeding symptoms between factor VII deficiency and hemophilia B.
Francesco Bernardi,Alberto Dolce,Mirko Pinotti,Amy D. Shapiro,Elena Santagostino,Flora Peyvandi,Angelika Batorova,Mario Lapecorella,J.-F. Schved,Jørgen Ingerslev,Gualtiero Mariani +10 more
TL;DR: The data support the notion that low FVII levels sustain hemostasis better than similarly reduced FIX levels, which contributes towards shaping clinical differences between diseases in the lowest factor level range.
Journal ArticleDOI
A mathematical model of coagulation under flow identifies factor V as a modifier of thrombin generation in hemophilia A
Kathryn G. Link,Michael T. Stobb,Matthew G. Sorrells,Maria Bortot,Katherine Ruegg,Marilyn J. Manco-Johnson,Jorge Di Paola,Suzanne Sindi,Aaron L. Fogelson,Karin Leiderman,Keith B. Neeves +10 more
TL;DR: The variability in bleeding patterns among individuals with hemophilia A, who have similar factor VIII (FVIII) levels, is significant and the origins are unknown.
Journal ArticleDOI
Genetic medicine at the RNA level: modifications of the genetic repertoire for therapeutic purposes by pre-mRNA trans-splicing.
TL;DR: In this paper, the authors focus on the use of trans-splicing to modify the genetic repertoire at the pre-mRNA level to treat genetic and acquired disorders, which can be used to alter coding domains, create novel fusion proteins, and direct gene products to various cellular compartments.
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Intravascular recovery of VWF and FVIII following intraperitoneal injection and differences from intravenous and subcutaneous injection in mice
TL;DR: It is demonstrated that both von Willebrand factor and factor VIII can be efficiently absorbed into the blood circulation following i.p. injection, indicating that s.c. administration could be an alternative route for VWF or FVIII infusion.
References
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Journal ArticleDOI
A Serious Adverse Event after Successful Gene Therapy for X-Linked Severe Combined Immunodeficiency
Salima Hacein-Bey-Abina,Christof von Kalle,Manfred Schmidt,Françoise Le Deist,NM Wulffraat,Elisabeth McIntyre,Isabelle Radford,Jean-Luc Villeval,Christopher Fraser,Marina Cavazzana-Calvo,Alain Fischer +10 more
TL;DR: The sustained correction of X-linked severe combined immunodeficiency disease by ex vivo, retrovirally mediated transfer of the γc gene into CD34+ cells in four of five patients with the disease has been reported.
Journal ArticleDOI
Evidence for gene transfer and expression of factor IX in haemophilia B patients treated with an AAV vector
Mark A. Kay,Catherine S. Manno,Catherine S. Manno,Margaret V. Ragni,Peter J. Larson,Peter J. Larson,Linda B. Couto,Alan McClelland,Bertil Glader,Amy J. Chew,Shing J Tai,Roland W. Herzog,Valder R. Arruda,Fred Johnson,Ciaran Scallan,Erik D. Skarsgard,Alan W. Flake,Alan W. Flake,Katherine A. High,Katherine A. High +19 more
TL;DR: Evidence of gene expression at low doses of vector suggests that dose calculations based on animal data may have overestimated the amount of vector required to achieve therapeutic levels in humans, and that the approach offers the possibility of converting severe haemophilia B to a milder form of the disease.
Journal ArticleDOI
Characterization of the human factor VIII gene
Jane Gitschier,William I. Wood,Therese M. Goralka,Karen L. Wion,Ellson Y. Chen,Dennis H. Eaton,Gordon A. Vehar,Daniel J. Capon,Richard M. Lawn +8 more
TL;DR: The complete 186,000 base-pair (bp) human factor VIII gene has been isolated and consists of 26 exons ranging in size from 69 to 3,106 bp and introns as large as 32.4 kilobases as mentioned in this paper.
Journal ArticleDOI
Twenty-five years' experience of prophylactic treatment in severe haemophilia A and B
TL;DR: It appears to be possible to prevent haemophilic arthropathy by giving effective continuous prophylaxis from an early age, and preventing the VIII:C or IX:C concentration from falling below 1% of normal.
Journal ArticleDOI
Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis.
Gilbert C. White,Frits R. Rosendaal,Louis M. Aledort,Jeanne M. Lusher,Chantal Rothschild,Jørgen Ingerslev +5 more
TL;DR: Definitions in Hemophilia - Recommendation of the Scientific Subcommittee on Factor VIII and Factor IX and the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.
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