Haemophilia is a genetic condition which is characterised by one of the blood clotting factors, usually encoded for on the X chromosome, not being encoded for properly for various reasons- whether it's a mobile genetic element inserting itself into the gene or a simple mutation. On the show today, we describe the cause and symptoms of haemophilia, as well as using the case study of Queen Victoria to show that new mutations are a surprisingly common root cause...
Sources for this episode:
- Francioli, L. C., et al. (2015), Genome-wide patterns and properties of de novo mutations in humans. Nature Genetics 47(7): 822- 826.
- Mannucci, P. M. and Tuddenham, E. G. D. (2001), The Haemophilias- From Royal Genes to Gene Therapy. The New England Journal of Medicine 344(23): 1773- 1779.
- Thain, M. and Hickman, M. (2014), Dictionary of Biology (Eleventh Edition). London: Penguin Books Ltd.
- Author unknown, The Haemophilia Society (date unknown), Bleeding Disorders > Haemophilia (online) [Accessed 08/04/2021].
- Author unknown, Wikipedia (date unknown), Factor VIII (online) [Accessed 08/04/2021].
- Author unknown, Wikipedia (date unknown), Queen Victoria (online) [Accessed 08/04/2021].
