Haemophilia

Journal article


Berntorp, E., Fischer, K., Hart, D.P., Mancuso, M.E., Stephensen, D., Shapiro, A.D. and Blanchette, V. 2021. Haemophilia. Nature Reviews Disease Primers. 7 (45). https://doi.org/10.1038/s41572-021-00278-x
AuthorsBerntorp, E., Fischer, K., Hart, D.P., Mancuso, M.E., Stephensen, D., Shapiro, A.D. and Blanchette, V.
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 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.

KeywordsHaemophilia
Year2021
JournalNature Reviews Disease Primers
Journal citation7 (45)
PublisherSpringer Nature
ISSN2056-676X
Digital Object Identifier (DOI)https://doi.org/10.1038/s41572-021-00278-x
Official URLhttps://www.nature.com/articles/s41572-021-00278-x
Publication dates
Online24 Jun 2021
Publication process dates
Deposited31 Mar 2022
Output statusPublished
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