Hemophilia causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sabawoon Mirwais, M.B.B.S, M.D.[2]
Overview[edit | edit source]
Hemophilia A, B, and C are caused by mutations in F8, F9, and F11 genes respectively. It can also occur as a result of autoantibodies directed against the clotting factors.
Causes[edit | edit source]
- Hemophilia A is caused by mutations in the F8 gene.[1][2]
- Hemophilia B is caused by mutations in the F9 gene.[3][4][5]
- Hemophilia C is caused by mutations in the F11 gene.[6]
- Generation of autoantibodies directed against clotting factors can also result in hemophilia.[7]
- Two-thirds of the hemophilia cases are usually due to familial history.[8][9]
- One-third of the hemophilia cases result from spontaneous genetic mutation.[10][9]
References[edit | edit source]
- ↑ Lakich, Delia; Kazazian, Haig H.; Antonarakis, Stylianos E.; Gitschier, Jane (1993). "Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A". Nature Genetics. 5 (3): 236–241. doi:10.1038/ng1193-236. ISSN 1061-4036.
- ↑ Bagnall, R. D. (2002). "Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A". Blood. 99 (1): 168–174. doi:10.1182/blood.V99.1.168. ISSN 0006-4971.
- ↑ Peyvandi, Flora; Garagiola, Isabella; Young, Guy (2016). "The past and future of haemophilia: diagnosis, treatments, and its complications". The Lancet. 388 (10040): 187–197. doi:10.1016/S0140-6736(15)01123-X. ISSN 0140-6736.
- ↑ Davie EW, Fujikawa K (1975). "Basic mechanisms in blood coagulation". Annu. Rev. Biochem. 44: 799–829. doi:10.1146/annurev.bi.44.070175.004055. PMID 237463.
- ↑ Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi K (July 1985). "Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)". Biochemistry. 24 (14): 3736–50. PMID 2994716.
- ↑ Asakai R, Chung DW, Ratnoff OD, Davie EW (October 1989). "Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations". Proc. Natl. Acad. Sci. U.S.A. 86 (20): 7667–71. PMC 298131. PMID 2813350.
- ↑ Napolitano M, Siragusa S, Mancuso S, Kessler CM (January 2018). "Acquired haemophilia in cancer: A systematic and critical literature review". Haemophilia. 24 (1): 43–56. doi:10.1111/hae.13355. PMID 28960809.
- ↑ Goodman, Catherine (2015). Pathology : implications for the physical therapist. St. Louis, Missouri: Elsevier Saunders. ISBN 9781455745913.
- ↑ 9.0 9.1 Srivastava A, Brewer AK, Mauser-Bunschoten EP, Key NS, Kitchen S, Llinas A, Ludlam CA, Mahlangu JN, Mulder K, Poon MC, Street A (January 2013). "Guidelines for the management of hemophilia". Haemophilia. 19 (1): e1–47. doi:10.1111/j.1365-2516.2012.02909.x. PMID 22776238.
- ↑ Goodman, Catherine (2015). Pathology : implications for the physical therapist. St. Louis, Missouri: Elsevier Saunders. ISBN 9781455745913.
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