Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

Haemophilia

Berntorp, Erik LU ; Fischer, Kathelijn ; Hart, Daniel P. ; Mancuso, Maria Elisa ; Stephensen, David ; Shapiro, Amy D. and Blanchette, Victor (2021) In Nature Reviews Disease Primers 7(1).
Abstract

Haemophilia A and B are rare congenital, recessive X-linked disorders caused by lack or deficiency of clotting factor VIII (FVIII) or IX (FIX), respectively. The severity of the disease depends on the reduction of levels of FVIII or FIX, which are determined by the type of the causative mutation in the genes encoding the factors (F8 and F9, respectively). The hallmark clinical characteristic, especially in untreated severe forms, is bleeding (spontaneous or after trauma) into major joints such as ankles, knees and elbows, which can result in the development of arthropathy. Intracranial bleeds and bleeds into internal organs may be life-threatening. The median life expectancy was ~30 years until the 1960s, but improved understanding of... (More)

Haemophilia A and B are rare congenital, recessive X-linked disorders caused by lack or deficiency of clotting factor VIII (FVIII) or IX (FIX), respectively. The severity of the disease depends on the reduction of levels of FVIII or FIX, which are determined by the type of the causative mutation in the genes encoding the factors (F8 and F9, respectively). The hallmark clinical characteristic, especially in untreated severe forms, is bleeding (spontaneous or after trauma) into major joints such as ankles, knees and elbows, which can result in the development of arthropathy. Intracranial bleeds and bleeds into internal organs may be life-threatening. The median life expectancy was ~30 years until the 1960s, but improved understanding of the disorder and development of efficacious therapy based on prophylactic replacement of the missing factor has caused a paradigm shift, and today individuals with haemophilia can look forward to a virtually normal life expectancy and quality of life. Nevertheless, the potential development of inhibitory antibodies to infused factor is still a major hurdle to overcome in a substantial proportion of patients. Finally, gene therapy for both types of haemophilia has progressed remarkably and could soon become a reality.

(Less)
Please use this url to cite or link to this publication:
author
; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Nature Reviews Disease Primers
volume
7
issue
1
article number
45
publisher
Nature Publishing Group
external identifiers
  • scopus:85108803601
  • pmid:34168126
ISSN
2056-676X
DOI
10.1038/s41572-021-00278-x
language
English
LU publication?
yes
id
82c67c1f-3cfb-42dd-946d-be4ed5fac723
date added to LUP
2021-08-13 15:01:38
date last changed
2024-06-16 16:50:30
@article{82c67c1f-3cfb-42dd-946d-be4ed5fac723,
  abstract     = {{<p>Haemophilia A and B are rare congenital, recessive X-linked disorders caused by lack or deficiency of clotting factor VIII (FVIII) or IX (FIX), respectively. The severity of the disease depends on the reduction of levels of FVIII or FIX, which are determined by the type of the causative mutation in the genes encoding the factors (F8 and F9, respectively). The hallmark clinical characteristic, especially in untreated severe forms, is bleeding (spontaneous or after trauma) into major joints such as ankles, knees and elbows, which can result in the development of arthropathy. Intracranial bleeds and bleeds into internal organs may be life-threatening. The median life expectancy was ~30 years until the 1960s, but improved understanding of the disorder and development of efficacious therapy based on prophylactic replacement of the missing factor has caused a paradigm shift, and today individuals with haemophilia can look forward to a virtually normal life expectancy and quality of life. Nevertheless, the potential development of inhibitory antibodies to infused factor is still a major hurdle to overcome in a substantial proportion of patients. Finally, gene therapy for both types of haemophilia has progressed remarkably and could soon become a reality.</p>}},
  author       = {{Berntorp, Erik and Fischer, Kathelijn and Hart, Daniel P. and Mancuso, Maria Elisa and Stephensen, David and Shapiro, Amy D. and Blanchette, Victor}},
  issn         = {{2056-676X}},
  language     = {{eng}},
  month        = {{12}},
  number       = {{1}},
  publisher    = {{Nature Publishing Group}},
  series       = {{Nature Reviews Disease Primers}},
  title        = {{Haemophilia}},
  url          = {{http://dx.doi.org/10.1038/s41572-021-00278-x}},
  doi          = {{10.1038/s41572-021-00278-x}},
  volume       = {{7}},
  year         = {{2021}},
}