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__NOTOC__ | __NOTOC__ | ||
{{Hemophilia}} | {{Hemophilia}} | ||
{{CMG}} | {{CMG}} {{AE}} {{Sab}} | ||
==Overview== | ==Overview== | ||
Hemophilia A, B, and C are caused by [[mutations]] in ''F8'', ''F9'', and ''F11'' [[genes]] respectively. It can also occur as a result of [[Autoantibody|autoantibodies]] directed against the clotting factors. | |||
==Causes== | ==Causes== | ||
*Hemophilia is caused by a | *Hemophilia A is caused by [[Mutation|mutations]] in the ''F8'' [[gene]].<ref name="LakichKazazian1993">{{cite journal|last1=Lakich|first1=Delia|last2=Kazazian|first2=Haig H.|last3=Antonarakis|first3=Stylianos E.|last4=Gitschier|first4=Jane|title=Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A|journal=Nature Genetics|volume=5|issue=3|year=1993|pages=236–241|issn=1061-4036|doi=10.1038/ng1193-236}}</ref><ref name="Bagnall2002">{{cite journal|last1=Bagnall|first1=R. D.|title=Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A|journal=Blood|volume=99|issue=1|year=2002|pages=168–174|issn=00064971|doi=10.1182/blood.V99.1.168}}</ref> | ||
*Hemophilia B is caused by [[Mutation|mutations]] in the ''F9'' [[gene]].<ref name="PeyvandiGaragiola2016">{{cite journal|last1=Peyvandi|first1=Flora|last2=Garagiola|first2=Isabella|last3=Young|first3=Guy|title=The past and future of haemophilia: diagnosis, treatments, and its complications|journal=The Lancet|volume=388|issue=10040|year=2016|pages=187–197|issn=01406736|doi=10.1016/S0140-6736(15)01123-X}}</ref><ref name="pmid237463">{{cite journal |vauthors=Davie EW, Fujikawa K |title=Basic mechanisms in blood coagulation |journal=Annu. Rev. Biochem. |volume=44 |issue= |pages=799–829 |date=1975 |pmid=237463 |doi=10.1146/annurev.bi.44.070175.004055 |url=}}</ref><ref name="pmid2994716">{{cite journal |vauthors=Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi K |title=Nucleotide sequence of the gene for human factor IX (antihemophilic factor B) |journal=Biochemistry |volume=24 |issue=14 |pages=3736–50 |date=July 1985 |pmid=2994716 |doi= |url=}}</ref> | |||
*Hemophilia C is caused by [[Mutation|mutations]] in the ''F11'' [[gene]].<ref name="pmid2813350">{{cite journal |vauthors=Asakai R, Chung DW, Ratnoff OD, Davie EW |title=Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=86 |issue=20 |pages=7667–71 |date=October 1989 |pmid=2813350 |pmc=298131 |doi= |url=}}</ref> | |||
*Generation of [[Autoantibody|autoantibodies]] directed against clotting factors can also result in hemophilia.<ref name="pmid28960809">{{cite journal |vauthors=Napolitano M, Siragusa S, Mancuso S, Kessler CM |title=Acquired haemophilia in cancer: A systematic and critical literature review |journal=Haemophilia |volume=24 |issue=1 |pages=43–56 |date=January 2018 |pmid=28960809 |doi=10.1111/hae.13355 |url=}}</ref> | |||
*Two-thirds of the hemophilia cases are usually due to [[Family history|familial history]].<ref>{{cite book | last = Goodman | first = Catherine | title = Pathology : implications for the physical therapist | publisher = Elsevier Saunders | location = St. Louis, Missouri | year = 2015 | isbn = 9781455745913 }}</ref><ref name="pmid22776238">{{cite journal |vauthors=Srivastava A, Brewer AK, Mauser-Bunschoten EP, Key NS, Kitchen S, Llinas A, Ludlam CA, Mahlangu JN, Mulder K, Poon MC, Street A |title=Guidelines for the management of hemophilia |journal=Haemophilia |volume=19 |issue=1 |pages=e1–47 |date=January 2013 |pmid=22776238 |doi=10.1111/j.1365-2516.2012.02909.x |url=}}</ref> | |||
*One-third of the hemophilia cases result from spontaneous [[Mutation|genetic mutation]].<ref>{{cite book | last = Goodman | first = Catherine | title = Pathology : implications for the physical therapist | publisher = Elsevier Saunders | location = St. Louis, Missouri | year = 2015 | isbn = 9781455745913 }}</ref><ref name="pmid22776238">{{cite journal |vauthors=Srivastava A, Brewer AK, Mauser-Bunschoten EP, Key NS, Kitchen S, Llinas A, Ludlam CA, Mahlangu JN, Mulder K, Poon MC, Street A |title=Guidelines for the management of hemophilia |journal=Haemophilia |volume=19 |issue=1 |pages=e1–47 |date=January 2013 |pmid=22776238 |doi=10.1111/j.1365-2516.2012.02909.x |url=}}</ref> | |||
==References== | ==References== | ||
{{reflist| | {{reflist|1}} | ||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
[[Category:Disease]] | [[Category:Disease]] | ||
[[Category:Hematology]] | [[Category:Hematology]] | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
Latest revision as of 14:08, 2 August 2019
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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
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
- 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
- ↑ 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.