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Region Hovedstaden - en del af Københavns Universitetshospital
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Natural history study of factor IX deficiency with focus on treatment and complications (B-Natural)

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Genetic screening of children with suspected inherited bleeding disorders

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Coagulation factor VIII is vital for increasing global coagulation after physical exercise

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Diagnosing von Willebrand disease

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Outcome of an enhanced diagnostic pipeline for patients suspected of inherited thrombocytopenia

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Coagulation factor VIII is vital for increasing global coagulation after physical exercise

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Joint Mobility and Physical Function of Danish Hemophilia Patients: A Three-Wave Panel Study Spanning 24 Years

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • Amy D Shapiro
  • Margaret V Ragni
  • Munira Borhany
  • Yasmina L Abajas
  • Michael D Tarantino
  • Katharina Holstein
  • Stacy E Croteau
  • Riana Liesner
  • Cristina Tarango
  • Manuela Carvalho
  • Catherine McGuinn
  • Eva Funding
  • Christine L Kempton
  • Christoph Bidlingmaier
  • Alice Cohen
  • Johannes Oldenburg
  • Susan Kearney
  • Christine Knoll
  • Philip Kuriakose
  • Suchitra Acharya
  • Ulrike M Reiss
  • Roshni Kulkarni
  • Michelle Witkop
  • Stefan Lethagen
  • Sharyne Donfield
  • Petra LeBeau
  • Erik Berntorp
  • Jan Astermark
Vis graf over relationer

INTRODUCTION: Haemophilia B (HB) is less well studied than haemophilia A (HA); despite similarities between the two inherited bleeding disorders, important differences remain that require further research.

AIM: B-Natural is a multi-centre, prospective, observational study of HB, designed to increase understanding of clinical manifestations, treatment, quality-of-life (QoL), inhibitor development, immune tolerance induction (ITI) outcome, renal function and create a biorepository for future investigations.

METHODS: Participants include sibling pairs/groups without a current/history of inhibitors and singletons or siblings with a current/history of inhibitors followed for six months. Demographics, medical, social history and treatment were recorded. A physical examination including joint range of motion (ROM) was performed; QoL was assessed. Samples were collected for F9 gene mutation, HLA typing, non-inhibitory antibodies and renal function testing.

RESULTS: Twenty-four centres enrolled 224 individuals from 107 families including 29 with current/history of inhibitors. Of these, 68, 30.4%, had severe (<1% FIX level of normal); 114, 50.9%, moderate (1%-5%); and 42, 18.8%, mild (>5-<40%) disease. At enrolment, 53.1% had 50 + exposure days to exogenous FIX. Comparison of joint scores showed significant (P < .05) differences between those with severe (with/without inhibitors), and those with moderate/mild disease. The majority with severe disease, 80.0% with current/history of inhibitors and 64.3% of those without, were treated with prophylaxis.

CONCLUSION: B-Natural provides data supporting an increased understanding of HB and its impact throughout life. The need for optimal disease control to normalize physical and psychosocial outcomes is underscored, and further analyses will contribute to an increased understanding of critical issues in HB.

OriginalsprogEngelsk
TidsskriftHaemophilia
Vol/bind27
Udgave nummer1
Sider (fra-til)49-59
Antal sider11
ISSN1351-8216
DOI
StatusUdgivet - jan. 2021

Bibliografisk note

© 2020 John Wiley & Sons Ltd.

ID: 62068178