Literature DB >> 25212677

Life-threatening bleeding in a patient with mild hemophilia A and heterozygosity for von Willebrand disease Type 2N.

John N Allan1, Kenneth D Friedman, Maria T DeSancho.   

Abstract

Hemophilia A and von Willebrand disease (VWD) are distinct bleeding disorders with a spectrum of clinical phenotypes. They are characterized by mutations in either factor VIII (F8) or von Willebrand factor (VWF) genes, respectively. The pattern of inheritance and appropriate laboratory evaluation differentiates these diseases, and treatment strategies for both are different. Here, we report a male patient with hemophilia A and VWD Type 2 Normandy (N) mutations who presented with life-threatening bleeding. We document his medical history, clinical course, management, and diagnostic work up.

Entities:  

Mesh：

Substances：

Year:  2014        PMID： 25212677     DOI： 10.1007/s12185-014-1662-3

Source DB:  PubMed          Journal:  Int J Hematol        ISSN： 0925-5710            Impact factor:   2.490


  15 in total

1.  Haemophilia A mutations in patients with non-severe phenotype associated with a discrepancy between one-stage and chromogenic factor VIII activity assays.

Authors:  Anna Pavlova; Daniel Delev; Behnaz Pezeshkpoor; Jens Müller; Johannes Oldenburg
Journal:  Thromb Haemost       Date:  2014-01-23       Impact factor: 5.249

2.  Mutations in the FVIII gene in seven families with mild haemophilia A.

Authors:  C Mazurier; C Gaucher; S Jorieux; A Parquet-Gernez
Journal:  Br J Haematol       Date:  1997-02       Impact factor: 6.998

3.  Factor VIII half-life and clinical phenotype of severe hemophilia A.

Authors:  Karin van Dijk; Johanna G van der Bom; Peter J Lenting; Philip G de Groot; Eveline P Mauser-Bunschoten; Goris Roosendaal; Diederick E Grobbee; H Marijke van den Berg
Journal:  Haematologica       Date:  2005-04       Impact factor: 9.941

Review 4.  The genetic basis of von Willebrand disease.

Authors:  Anne C Goodeve
Journal:  Blood Rev       Date:  2010-04-20       Impact factor: 8.250

5.  Functional and immunological assays of FVIII in 133 haemophiliacs--characterization of a subgroup of patients with mild haemophilia A and discrepancy in 1- and 2-stage assays.

Authors:  A Parquet-Gernez; C Mazurier; M Goudemand
Journal:  Thromb Haemost       Date:  1988-04-08       Impact factor: 5.249

6.  One-stage and chromogenic FVIII:C assay discrepancy in mild haemophilia A and the relationship with the mutation and bleeding phenotype.

Authors:  A R Cid; M Calabuig; V Cortina; P Casaña; S Haya; A Moret; N Cabrera; J A Aznar
Journal:  Haemophilia       Date:  2008-06-05       Impact factor: 4.287

Review 7.  Multiple congenital coagulopathies co-expressed with Von Willebrand's disease: the experience of Hemophilia Region III Treatment Centers over 25 years and review of the literature.

Authors:  E Asatiani; C M Kessler
Journal:  Haemophilia       Date:  2007-11       Impact factor: 4.287

8.  Diagnostic testing for mild hemophilia a in patients with discrepant one-stage, two-stage, and chromogenic factor VIII:C assays.

Authors:  Elizabeth M Duncan; Susan E Rodgers; Simon J McRae
Journal:  Semin Thromb Hemost       Date:  2013-03-04       Impact factor: 4.180

9.  Co-inheritance of mild hemophilia A and heterozygosity for type 2N von Willebrand disease: a diagnostic and therapeutic challenge.

Authors:  Holly Lindsay; Katie Bergstrom; Lakshmi Srivaths
Journal:  Pediatr Blood Cancer       Date:  2014-04-07       Impact factor: 3.167

10.  Identifying carriers of type 2N von Willebrand disease: procedures and significance.

Authors:  A Casonato; E Pontara; F Sartorello; M G Cattini; P Perutelli; A Bertomoro; L Gallinaro; A Pagnan
Journal:  Clin Appl Thromb Hemost       Date:  2007-04       Impact factor: 2.389
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.