haemophilia C

In terms of the signs/symptoms of haemophilia C, unlike individuals with Haemophilia A and B, people affected by it are not ones to bleed spontaneously. In these cases, haemorrhages tend to happen after a major surgery or injury.{{Cite journal |last=Gomez |first=K. |last2=Bolton-Maggs |first2=P. |date=2008-11-01 |title=Factor XI deficiency |journal=Haemophilia |language=en |volume=14 |issue=6 |pages=1183–1189 |doi=10.1111/j.1365-2516.2008.01667.x |issn=1365-2516 |pmid=18312365 |s2cid=27557689 |doi-access=free}} However, people affected with haemophilia C might experience symptoms closely related to those of other forms of haemophilia such as the following:{{Cite journal |last=Seligsohn |first=U. |date=2009-07-01 |title=Factor XI deficiency in humans |journal=Journal of Thrombosis and Haemostasis |language=en |volume=7 |pages=84–87 |doi=10.1111/j.1538-7836.2009.03395.x |issn=1538-7836 |pmid=19630775 |s2cid=37670882 |doi-access=free}}

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• Oral bleeding.
• Nosebleeds
• Blood in the urine
• Post-partum bleeding (20% of cases)
• Tonsils (bleeding)

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File:Human male karyotpe high resolution - Chromosome 4 cropped.png

Haemophilia C is caused by a deficiency of coagulation factor XI and is distinguished from haemophilia A and B by the fact it does not lead to bleeding into the joints. Because factor XI helps sustain the fibrin clot in the intrinsic clotting pathway and combat fibrinolysis, a deficiency in this factor contributes to abnormal bleeding patterns; however, the amount of excessive bleeding is variable among those with haemophilia C. {{Cite book |last=Bane |first=Charles E. |url=https://books.google.com/books?id=aOPOAgAAQBAJ |title=Factor XI Deficiency or Hemophilia C |last2=Neff |first2=Anne T. |last3=Gailani |first3=David. |date=2014-04-20 |publisher=John Wiley & Sons, Inc. |isbn=978-0-470-67050-7 |page=71-81 |language=en}} Furthermore, it has autosomal recessive inheritance since the gene for factor XI is located on chromosome 4 (near the prekallikrein gene); and it is not completely recessive, individuals who are heterozygous also show increased bleeding.{{Cite web |title=OMIM Entry - # 612416 - FACTOR XI DEFICIENCY |url=http://omim.org/entry/612416 |access-date=2016-07-12 |website=omim.org}}

Many mutations exist, and the bleeding risk is not always influenced by the severity of the deficiency. Haemophilia C is occasionally observed in individuals with systemic lupus erythematosus, because of inhibitors to the FXI protein.{{Cite book |last=Kitchens |first=Craig S. |url=https://books.google.com/books?id=3uGI1ej3ebUC |title=Consultative Hemostasis and Thrombosis |last2=Konkle |first2=Barbara A. |last3=Kessler |first3=Craig M. |date=2013-02-20 |publisher=Elsevier Health Sciences |isbn=978-1455733293 |page=70 |language=en}}

The diagnosis of haemophilia C (factor XI deficiency) is centered on prolonged activated partial thromboplastin time (aPTT). One will find that the factor XI has decreased in the individual's body. In terms of differential diagnosis, one must consider: haemophilia A, haemophilia B, lupus anticoagulant and heparin contamination.{{Cite web |last=RESERVED |first=INSERM US14 -- ALL RIGHTS |title=Orphanet: Congenital factor XI deficiency Hemophilia C |url=http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=4511&Disease_Disease_Search_diseaseGroup=hemophilia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%252520of%252520diseases=Congenital-factor-XI-deficiency--Hemophilia-C-&title=Congenital-factor-XI-deficiency--Hemophilia-C-&search=Disease_Search_Simple |access-date=2016-07-12 |website=www.orpha.net}} The prolongation of the activated partial thromboplastin time should completely correct with a 1:1 mixing study with normal plasma if haemophilia C is present; in contrast, if a lupus anticoagulant is present as the cause of a prolonged aPTT, the aPTT will not correct with a 1:1 mixing study.{{citation needed|date=July 2018}}

In terms of haemophilia C medication tranexamic acid is often used for both treatment after an incident of bleeding and as a preventive measure to avoid excessive bleeding during oral surgery.{{Cite journal |last=Anderson |first=J. a. M. |last2=Brewer |first2=A. |last3=Creagh |first3=D. |last4=Hook |first4=S. |last5=Mainwaring |first5=J. |last6=McKernan |first6=A. |last7=Yee |first7=T. T. |last8=Yeung |first8=C. A. |date=23 November 2013 |title=Guidance on the dental management of patients with haemophilia and congenital bleeding disorders |journal=British Dental Journal |language=en |volume=215 |issue=10 |pages=497–504 |doi=10.1038/sj.bdj.2013.1097 |issn=0007-0610 |pmid=24264665 |doi-access=free}}

Treatment is usually unnecessary, except in relation to operations, leading to many of those having the condition not being aware of it. In these cases, fresh frozen plasma or recombinant factor XI may be used, but only if necessary.{{Cite book |last=Orkin |first=Stuart H. |url=https://books.google.com/books?id=gjWaBQAAQBAJ |title=Nathan and Oski's Hematology and Oncology of Infancy and Childhood |last2=Nathan |first2=David G. |last3=Ginsburg |first3=David |last4=Look |first4=A. Thomas |last5=Fisher |first5=David E. |last6=IV |first6=Samuel Lux |date=2014-11-14 |publisher=Elsevier Health Sciences |isbn=9780323291774 |page=136 |language=en}}

Those affected may often develop nosebleeds, while females can experience unusual menstrual bleeding which can be avoided by taking birth control such as: IUDs and oral or injected contraceptives to increase coagulation ability by adjusting hormones to levels similar to pregnancy.{{medical citation needed|date=July 2016}}

File:Tranexamic acid ball-and-stick.png|Cyklokapron (Tranexamic acid)

File:FreshFrozenPlasma.JPG|Fresh Frozen Plasma

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• Bleeding diathesis
• Bernard–Soulier syndrome
• Von Willebrand disease
• Vitamin K deficiency
• Congenital afibrinogenemia
• Coagulopathy

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{{Reflist|32em}}

• {{Cite journal |last=Zucker |first=M. |last2=Zivelin |first2=A. |last3=Landau |first3=M. |last4=Salomon |first4=O. |last5=Kenet |first5=G. |last6=Bauduer |first6=F. |last7=Samama |first7=M. |last8=Conard |first8=J. |last9=Denninger |first9=M.-H. |last10=Hani |first10=A.-S. |last11=Berruyer |first11=M. |last12=Feinstein |first12=D. |last13=Seligsohn |first13=U. |date=1 October 2007 |title=Characterization of seven novel mutations causing factor XI deficiency |journal=Haematologica |language=en |volume=92 |issue=10 |pages=1375–1380 |doi=10.3324/haematol.11526 |issn=0390-6078 |pmid=18024374 |doi-access=free}}
• {{Cite book |last=Orkin |first=Stuart H. |url=https://books.google.com/books?id=_9CmOIvgJm4C&q=factor+XI+deficiency++diagnosis&pg=PA163 |title=Nathan and Oski's Hematology of Infancy and Childhood |last2=Nathan |first2=David G. |date=2008 |publisher=Elsevier Health Sciences |isbn=978-1416034308 |language=en |access-date=12 July 2016}}
• {{Cite book |last=Goldman |first=Lee |url=https://books.google.com/books?id=40Z9CAAAQBAJ&q=factor+XI+deficiency++diagnosis&pg=PA101-IA104 |title=Goldman-Cecil Medicine Elsevieron VitalSource |last2=Schafer |first2=Andrew I. |date=2016 |publisher=Elsevier Health Sciences |isbn=9780323322850 |language=en |access-date=12 July 2016}}

{{Medical resources

| DiseasesDB = 29376

| ICD10 = {{ICD10|D|68|1|d|65}}

| ICD9 = {{ICD9|286.2}}

| ICDO =

| OMIM = 264900

| MedlinePlus =

| eMedicineSubj = ped

| eMedicineTopic = 964

| eMedicine_mult = {{eMedicine2|med|3515}}

| MeshID = D005173

}}

{{Commons}}

{{Scholia|topic}}

{{Diseases of megakaryocytes}}

{{Medicine}}

Category:Haemophilia