Haemophilia C: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Haemophilia C | |||
| image = [[File:Protein_F11_PDB_1xx9.png|alt=Protein F11]] | |||
| caption = Structure of [[Factor XI]] | |||
| synonyms = [[Factor XI deficiency]], [[Rosenthal syndrome]] | |||
| pronounce = <!-- Optional field for pronunciation --> | |||
| specialty = [[Hematology]] | |||
| symptoms = [[Bleeding]] | |||
| complications = [[Hemorrhage]] | |||
| onset = Varies | |||
| duration = Lifelong | |||
| types = <!-- Optional field for types --> | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Blood test]] | |||
| differential = [[Haemophilia A]], [[Haemophilia B]] | |||
| prevention = None | |||
| treatment = [[Fresh frozen plasma]], [[Antifibrinolytics]] | |||
| medication = <!-- Optional field for medication --> | |||
| prognosis = Generally good with treatment | |||
| frequency = Rare | |||
| deaths = <!-- Optional field for deaths --> | |||
}} | |||
[[File:Human male karyotpe high resolution - Chromosome 4 cropped.png|Haemophilia C|thumb|left]] | |||
[[File:Tranexamic acid ball-and-stick.png|Haemophilia C|thumb|left]] | |||
[[File:FreshFrozenPlasma.JPG|Haemophilia C|thumb|left]] | |||
'''Haemophilia C''' is a rare genetic disorder that affects the blood's ability to clot. It is also known as '''Factor XI deficiency''' or '''Rosenthal syndrome'''. This condition is caused by a deficiency of a protein called Factor XI, which is necessary for blood clotting. | '''Haemophilia C''' is a rare genetic disorder that affects the blood's ability to clot. It is also known as '''Factor XI deficiency''' or '''Rosenthal syndrome'''. This condition is caused by a deficiency of a protein called Factor XI, which is necessary for blood clotting. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of Haemophilia C can vary greatly among individuals. Some people may have no symptoms, while others may experience severe bleeding. Common symptoms include: | The symptoms of Haemophilia C can vary greatly among individuals. Some people may have no symptoms, while others may experience severe bleeding. Common symptoms include: | ||
* [[Nosebleeds]] | * [[Nosebleeds]] | ||
* [[Bleeding gums]] | * [[Bleeding gums]] | ||
| Line 11: | Line 35: | ||
* [[Heavy menstrual bleeding]] in women | * [[Heavy menstrual bleeding]] in women | ||
* [[Bleeding into joints]] and muscles | * [[Bleeding into joints]] and muscles | ||
== Causes == | == Causes == | ||
Haemophilia C is caused by mutations in the [[F11 gene]], which provides instructions for making Factor XI. This protein plays a crucial role in the coagulation cascade, a series of chemical reactions that forms blood clots in response to injury. Mutations in the F11 gene reduce the amount or activity of Factor XI, leading to the bleeding problems characteristic of Haemophilia C. | Haemophilia C is caused by mutations in the [[F11 gene]], which provides instructions for making Factor XI. This protein plays a crucial role in the coagulation cascade, a series of chemical reactions that forms blood clots in response to injury. Mutations in the F11 gene reduce the amount or activity of Factor XI, leading to the bleeding problems characteristic of Haemophilia C. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Haemophilia C is based on a [[blood test]] that measures the amount of Factor XI in the blood. A low level of Factor XI is indicative of Haemophilia C. | Diagnosis of Haemophilia C is based on a [[blood test]] that measures the amount of Factor XI in the blood. A low level of Factor XI is indicative of Haemophilia C. | ||
== Treatment == | == Treatment == | ||
Treatment for Haemophilia C typically involves replacing the missing Factor XI. This can be done through infusions of [[plasma]] or Factor XI concentrate. In some cases, [[antifibrinolytic drugs]] may be used to help prevent bleeding. | Treatment for Haemophilia C typically involves replacing the missing Factor XI. This can be done through infusions of [[plasma]] or Factor XI concentrate. In some cases, [[antifibrinolytic drugs]] may be used to help prevent bleeding. | ||
== See also == | == See also == | ||
* [[Haemophilia A]] | * [[Haemophilia A]] | ||
* [[Haemophilia B]] | * [[Haemophilia B]] | ||
* [[Blood clotting disorders]] | * [[Blood clotting disorders]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Blood disorders]] | [[Category:Blood disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 00:10, 10 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
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| Haemophilia C | |
|---|---|
| |
| Synonyms | Factor XI deficiency, Rosenthal syndrome |
| Pronounce | |
| Specialty | Hematology |
| Symptoms | Bleeding |
| Complications | Hemorrhage |
| Onset | Varies |
| Duration | Lifelong |
| Types | |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Blood test |
| Differential diagnosis | Haemophilia A, Haemophilia B |
| Prevention | None |
| Treatment | Fresh frozen plasma, Antifibrinolytics |
| Medication | |
| Prognosis | Generally good with treatment |
| Frequency | Rare |
| Deaths | |
Haemophilia C is a rare genetic disorder that affects the blood's ability to clot. It is also known as Factor XI deficiency or Rosenthal syndrome. This condition is caused by a deficiency of a protein called Factor XI, which is necessary for blood clotting.
Symptoms[edit]
The symptoms of Haemophilia C can vary greatly among individuals. Some people may have no symptoms, while others may experience severe bleeding. Common symptoms include:
- Nosebleeds
- Bleeding gums
- Easy bruising
- Prolonged bleeding from cuts
- Heavy menstrual bleeding in women
- Bleeding into joints and muscles
Causes[edit]
Haemophilia C is caused by mutations in the F11 gene, which provides instructions for making Factor XI. This protein plays a crucial role in the coagulation cascade, a series of chemical reactions that forms blood clots in response to injury. Mutations in the F11 gene reduce the amount or activity of Factor XI, leading to the bleeding problems characteristic of Haemophilia C.
Diagnosis[edit]
Diagnosis of Haemophilia C is based on a blood test that measures the amount of Factor XI in the blood. A low level of Factor XI is indicative of Haemophilia C.
Treatment[edit]
Treatment for Haemophilia C typically involves replacing the missing Factor XI. This can be done through infusions of plasma or Factor XI concentrate. In some cases, antifibrinolytic drugs may be used to help prevent bleeding.
See also[edit]
References[edit]
<references />
