Correlation between phenotype and genotype in a large unselected cohort of children with severe hemophilia A-Reference-Cited by-同舟云学术

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

Published:2013-05-09 Issue:19 Volume:121 Page:3946-3952
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Carcao Manuel D.¹,van den Berg H. Marijke²,Ljung Rolf³,Mancuso Maria Elisa⁴,Altisent C,Auerswald G,Chalmers E,Chambost H,Cid A,Claeyssens S,Clausen N,Fischer K,Kliniek Van Creveld,van Geet Ch,Peerlinck K,Kobelt R,Kreuz W,Escuriola C,Kurnik K,Liesner R,Ljung R,Mäkipernaa A,Molinari A,Muntean W,Oldenburg J,Garrido R Pérez,Petrini P,Platokouki H,Rafowicz A,Santagostino E,Mancuso ME,Thomas A,Williams M,Gouw SC,van den Berg HM,Kenet G,Carcao M,Rivard G

Affiliation:

1. Child Health Evaluative Sciences, Research Institute, Division of Haematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON Canada;

2. Department of Laboratory and Pharmacy, University Hospital Utrecht, Utrecht, the Netherlands;

3. Lund University, Departments of Paediatrics and Mälmo Centre for Thrombosis and Haemostasis, Skåne University Hospital, Sweden; and

4. Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, Milan, Italy

Abstract

Key Points Previously untreated patients with severe hemophilia A caused by F8 null mutations show a more severe phenotype than previously untreated patients with non-null mutations. The phenotypic differences are modest, and as such not likely to affect decisions regarding when and how to start prophylaxis.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/121/19/3946/1218454/3946.pdf

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