Abstract
Christmas disease, or haemophilia B, is an inherited X-linked haemorrhagic disease which at present occurs in 798 known cases in the United Kingdom, corresponding to a frequency of about 1 in 30,000 males. Patients are deficient in the intrinsic clotting factor IX and are treated by replacement of this protein prepared from pooled plasma obtained from normal individuals. Occasionally treatment is complicated by the appearance of specific anti-factor IX antibodies. It seemed to us that this might be due to the absence of ‘self’ factor IX causing the immune system to regard the infused normal factor IX as foreign. The absence of all or part of the factor IX gene was an obvious possible reason for this, which we have now tested using our previously isolated gene probe1. We have found four patients with gross gene defects.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 51 print issues and online access
$199.00 per year
only $3.90 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Choo, K. H., Gould, K. G., Rees, D. J. G. & Brownlee, G. G. Nature 299, 178–180 (1982).
Rizza, C. R. & Spooner, R. J. D. Br. med. J. 286, 929–933 (1983).
Southern, E. M. J. molec. Biol. 98, 503–517 (1975).
Shoulders, C. C. & Baralle, F. E. Nucleic Acids Res. 10, 4873–4882 (1982).
Seabright, M. Lancet ii, 971–972 (1971).
Shapiro, S. S. & Holburn, R. in Haemophilia and New Haemorrhagic States (ed. Brinkhous, K. M.) (University of North Carolina Press, Chapel Hill, 1970).
Shapiro, S. S. in Clinics in Haematology Vol. 8 (ed. Rizza, C. R.) 207–214 (Saunders, London, 1979).
Maniatis, T., Fritsch, R. F. & Sambrook, J. (eds) Molecular Cloning: A Laboratory Manual (Cold Spring Harbor Laboratories, New York, 1982).
Brownlee, G. G. & Choo, K. H. British Patent Application no. 8222486 (1982).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Giannelli, F., Choo, K., Rees, D. et al. Gene deletions in patients with haemophilia B and anti-factor IX antibodies. Nature 303, 181–182 (1983). https://doi.org/10.1038/303181a0
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/303181a0
This article is cited by
-
Detection of unamplified target genes via CRISPR–Cas9 immobilized on a graphene field-effect transistor
Nature Biomedical Engineering (2019)
-
Prevention and Management of Bleeding Episodes in Children with Hemophilia
Pediatric Drugs (2018)
-
Alport syndrome, basement membranes and collagen
Pediatric Nephrology (1990)
Comments
By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.
