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Natural history study of factor IX deficiency with focus on treatment and complications (B‐Natural)
- Source :
- Haemophilia. 27:49-59
- Publication Year :
- 2020
- Publisher :
- Wiley, 2020.
-
Abstract
- 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.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.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.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.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.
- Subjects :
- medicine.medical_specialty
Haemophilia A
Physical examination
Disease
030204 cardiovascular system & hematology
Gene mutation
Hemophilia A
Hemophilia B
Factor IX
03 medical and health sciences
0302 clinical medicine
Quality of life
Internal medicine
medicine
Humans
Haemophilia B
Prospective Studies
Genetics (clinical)
medicine.diagnostic_test
business.industry
Hematology
General Medicine
medicine.disease
Social history (medicine)
Quality of Life
business
Natural history study
030215 immunology
Subjects
Details
- ISSN :
- 13652516 and 13518216
- Volume :
- 27
- Database :
- OpenAIRE
- Journal :
- Haemophilia
- Accession number :
- edsair.doi.dedup.....e05daff7a3934a8a48410198044c5bcf