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
Permalink -

https://repository.canterbury.ac.uk/item/90w88/haemophilia

  • 5
    total views
  • 0
    total downloads
  • 1
    views this month
  • 0
    downloads this month

Export as

Related outputs

Managing flare-ups: The experience of a group of swimmers with persistent low back pain
Oakes, H., DeVivo, M., Stephensen, D. and Mills, H. 2021. Managing flare-ups: The experience of a group of swimmers with persistent low back pain. Physiotherapy. 114 (S1), pp. E220-E221. https://doi.org/10.1016/j.physio.2021.12.208
Pool closures during the COVID-19 pandemic and the impact on low back pain management
Oakes, H., DeVivo, M., Stephensen, D. and Mills, H. 2021. Pool closures during the COVID-19 pandemic and the impact on low back pain management.
Physiotherapy interventions for pain management in haemophilia: A systematic review
Hurley, M., Chowdary, P., Khair, K., McLaughlin, P. and Stephensen, D. 2020. Physiotherapy interventions for pain management in haemophilia: A systematic review. Haemophilia. https://doi.org/10.1111/hae.14030
The importance of cancer patients' functional recollections to explore the acceptability of an isometric-resistance exercise intervention: A qualitative study
Hashem, F., Corbett, K., Stephensen, D., Swaine, I.L., Ali, H. and Hutchins, I. 2020. The importance of cancer patients' functional recollections to explore the acceptability of an isometric-resistance exercise intervention: A qualitative study. Health Science Reports. https://doi.org/10.1002/hsr2.186
Muscle strengthening intervention for boys with haemophilia: Developing and evaluating a best-practice exercise programme with boys, families and health-care professionals
Hashem, F., Stephensen, D., Drechsler, W.I., Bladen, M., Carroll, L., Pellatt-Higgins, T. and Saloniki, E.C. 2020. Muscle strengthening intervention for boys with haemophilia: Developing and evaluating a best-practice exercise programme with boys, families and health-care professionals. Health Expectations. 23 (5), pp. 1350-1361. https://doi.org/10.1111/hex.13119
Acceptability and feasibility of an isometric resistance exercise program for abdominal cancer surgery: An embedded qualitative study
Stephensen, D., Hashem, F., Bates, A., Pellatt-Higgins, T., Hobbs, R.P., Hopkins, M., Woodward, H., Stavropoulou, C., Swaine, I.L. and Ali, H. 2020. Acceptability and feasibility of an isometric resistance exercise program for abdominal cancer surgery: An embedded qualitative study. Cancer Control. https://doi.org/10.1177/1073274820950855
Comprehensive care on paper only? The challenge for physiotherapy provision in day to day haemophilia practice
McLaughlin, P., Aspdahl, M., Matlary, R. E. D., Grinda, N., Katzerova, M., O'Mahony, B., Stephensen, D. and Lobet, S. 2020. Comprehensive care on paper only? The challenge for physiotherapy provision in day to day haemophilia practice. Haemophilia. 2021 (27), pp. 284-286. https://doi.org/10.1111/hae.14150
Results of feasibility and safety of randomised controlled trial of a musculoskeletal exercise intervention versus usual care for children with haemophilia
Bladen, M., Carroll, L., Dodd, C., Drechsler, W., Hashem, F., Patel, V., Pellatt-Higgins, T., Saloniki, I. and Stephensen, D. 2020. Results of feasibility and safety of randomised controlled trial of a musculoskeletal exercise intervention versus usual care for children with haemophilia. Haemophilia. 2020 (26), pp. 223-225. https://doi.org/10.1111/hae.14026
Natural history of radiographic first metatarsophalangeal joint osteoarthritis: A nineteen‐year population‐based cohort study
Bowen, C., Gates, Lucy, McQueen, Peter, Daniels, Maxine, Delmestri, Antonella, Drechsler, Wendy, Stephensen, David, Doherty, Michael and Arden, Nigel 2020. Natural history of radiographic first metatarsophalangeal joint osteoarthritis: A nineteen‐year population‐based cohort study. Arthritis Care & Research. 72 (9), pp. 1224-1230. https://doi.org/10.1002/acr.24015
Scoping review: should physiotherapists recommend swimming to patients with low back pain and is further research indicated
Oakes, H., Mills, H., DeVivo, M. and Stephensen, D. 2020. Scoping review: should physiotherapists recommend swimming to patients with low back pain and is further research indicated. Physiotherapy. 107 (S1), p. e190. https://doi.org/10.1016/j.physio.2020.03.278
Telephone or video? A review of telemedicine consultations during the COVID-19 pandemic in a spinal MSK service
Oakes, H., Hussey, J, Stephensen, D. and Oakes, A 2020. Telephone or video? A review of telemedicine consultations during the COVID-19 pandemic in a spinal MSK service.
Treatment regimens and outcomes in severe and moderate haemophilia A in the UK: The THUNDER study
Scott M.J., Xiang, H., Hart, D.P., Palmer, B., Collins, P.W., Stephensen, D., Sima, C.S. and Hay, C.R.M. 2018. Treatment regimens and outcomes in severe and moderate haemophilia A in the UK: The THUNDER study. Haemophilia. https://doi.org/10.1111/hae.13616
Postural stability is affected in older males with Haemophilia—a matched control study
Digby-Bowl, C., Brown, M. and Stephensen, D. 2018. Postural stability is affected in older males with Haemophilia—a matched control study. Journal of Functional Morphology and Kinesiology. 3 (1), pp. 10-20. https://doi.org/10.3390/jfmk3010010
Clinical outcome measures for monitoring physical function in pediatric obesity: An integrative review
Mahaffey, R., Morrison, S.C., Stephensen, D. and Drechsler, W.I. 2016. Clinical outcome measures for monitoring physical function in pediatric obesity: An integrative review. Obesity. 24 (5), pp. 993-1017. https://doi.org/10.1002/oby.21468