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Natural history study of factor IX deficiency with focus on treatment and complications (B‐Natural)
Author(s) -
Shapiro Amy D.,
Ragni Margaret V.,
Borhany Munira,
Abajas Yasmina L.,
Tarantino Michael D.,
Holstein Katharina,
Croteau Stacy E.,
Liesner Riana,
Tarango Cristina,
Carvalho Manuela,
McGuinn Catherine,
Funding Eva,
Kempton Christine L.,
Bidlingmaier Christoph,
Cohen Alice,
Oldenburg Johannes,
Kearney Susan,
Knoll Christine,
Kuriakose Philip,
Acharya Suchitra,
Reiss Ulrike M.,
Kulkarni Roshni,
Witkop Michelle,
Lethagen Stefan,
Donfield Sharyne,
LeBeau Petra,
Berntorp Erik,
Astermark Jan
Publication year - 2021
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1111/hae.14139
Subject(s) - medicine , natural history , natural (archaeology) , focus (optics) , history , physics , archaeology , optics
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.