Haemophilia B: Difference between revisions
From WikiMD's Wellness Encyclopedia
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{{Infobox medical condition | |||
| name = Haemophilia B | |||
| image = [[File:X-linked_recessive_(2).svg|200px]] | |||
| caption = Haemophilia B is inherited in an [[X-linked recessive]] pattern. | |||
| synonyms = Christmas disease, Factor IX deficiency | |||
| pronounce = | |||
| specialty = [[Hematology]] | |||
| symptoms = [[Prolonged bleeding]], [[easy bruising]], [[joint pain]] | |||
| complications = [[Hemarthrosis]], [[intracranial hemorrhage]], [[anemia]] | |||
| onset = [[Childhood]] | |||
| duration = [[Lifelong]] | |||
| types = | |||
| causes = [[Genetic mutation]] in the [[F9 gene]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Blood test]] for [[Factor IX]] activity | |||
| differential = [[Haemophilia A]], [[von Willebrand disease]] | |||
| prevention = [[Genetic counseling]] | |||
| treatment = [[Factor IX replacement therapy]], [[desmopressin]] | |||
| medication = | |||
| prognosis = [[Normal life expectancy]] with treatment | |||
| frequency = 1 in 25,000 male births | |||
| deaths = | |||
}} | |||
[[File:Human male karyotpe high resolution - X chromosome cropped.png|Human male karyotype - X chromosome|thumb|left]] | |||
[[File:Coagulation full.svg|Coagulation cascade|thumb|left]] | |||
[[File:PDB 1pfx EBI.jpg|Protein structure related to Haemophilia B|thumb|left]] | |||
'''Haemophilia B''' is a [[blood disorder]] that prevents blood from clotting properly. This is a rare genetic disorder that is usually inherited. It is caused by a deficiency of [[Factor IX]], a clotting protein. | '''Haemophilia B''' is a [[blood disorder]] that prevents blood from clotting properly. This is a rare genetic disorder that is usually inherited. It is caused by a deficiency of [[Factor IX]], a clotting protein. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of Haemophilia B can vary greatly, depending on the severity of the disorder. Some of the most common symptoms include: | The symptoms of Haemophilia B can vary greatly, depending on the severity of the disorder. Some of the most common symptoms include: | ||
* [[Bleeding]] that is difficult to stop, even from minor wounds | * [[Bleeding]] that is difficult to stop, even from minor wounds | ||
* Frequent and unexplained [[nosebleeds]] | * Frequent and unexplained [[nosebleeds]] | ||
| Line 10: | Line 34: | ||
* Unusual bruising | * Unusual bruising | ||
* Joint pain and swelling | * Joint pain and swelling | ||
== Causes == | == Causes == | ||
Haemophilia B is caused by a mutation in the F9 gene, which is responsible for producing Factor IX. This mutation can be inherited from a parent, or it can occur spontaneously. | Haemophilia B is caused by a mutation in the F9 gene, which is responsible for producing Factor IX. This mutation can be inherited from a parent, or it can occur spontaneously. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Haemophilia B is usually made through a blood test that measures the level of Factor IX in the blood. Other tests may be used to rule out other conditions that can cause similar symptoms. | Diagnosis of Haemophilia B is usually made through a blood test that measures the level of Factor IX in the blood. Other tests may be used to rule out other conditions that can cause similar symptoms. | ||
== Treatment == | == Treatment == | ||
Treatment for Haemophilia B typically involves replacing the missing Factor IX through infusions of a clotting factor concentrate. Other treatments may include medications to prevent blood clots, and physical therapy to manage joint damage. | Treatment for Haemophilia B typically involves replacing the missing Factor IX through infusions of a clotting factor concentrate. Other treatments may include medications to prevent blood clots, and physical therapy to manage joint damage. | ||
== See also == | == See also == | ||
* [[Haemophilia A]] | * [[Haemophilia A]] | ||
* [[Blood clot]] | * [[Blood clot]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Blood disorders]] | [[Category:Blood disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 00:04, 10 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Haemophilia B | |
|---|---|
.svg)
| |
| Synonyms | Christmas disease, Factor IX deficiency |
| Pronounce | |
| Specialty | Hematology |
| Symptoms | Prolonged bleeding, easy bruising, joint pain |
| Complications | Hemarthrosis, intracranial hemorrhage, anemia |
| Onset | Childhood |
| Duration | Lifelong |
| Types | |
| Causes | Genetic mutation in the F9 gene |
| Risks | Family history |
| Diagnosis | Blood test for Factor IX activity |
| Differential diagnosis | Haemophilia A, von Willebrand disease |
| Prevention | Genetic counseling |
| Treatment | Factor IX replacement therapy, desmopressin |
| Medication | |
| Prognosis | Normal life expectancy with treatment |
| Frequency | 1 in 25,000 male births |
| Deaths | |
Haemophilia B is a blood disorder that prevents blood from clotting properly. This is a rare genetic disorder that is usually inherited. It is caused by a deficiency of Factor IX, a clotting protein.
Symptoms[edit]
The symptoms of Haemophilia B can vary greatly, depending on the severity of the disorder. Some of the most common symptoms include:
- Bleeding that is difficult to stop, even from minor wounds
- Frequent and unexplained nosebleeds
- Blood in the urine or stool
- Unusual bruising
- Joint pain and swelling
Causes[edit]
Haemophilia B is caused by a mutation in the F9 gene, which is responsible for producing Factor IX. This mutation can be inherited from a parent, or it can occur spontaneously.
Diagnosis[edit]
Diagnosis of Haemophilia B is usually made through a blood test that measures the level of Factor IX in the blood. Other tests may be used to rule out other conditions that can cause similar symptoms.
Treatment[edit]
Treatment for Haemophilia B typically involves replacing the missing Factor IX through infusions of a clotting factor concentrate. Other treatments may include medications to prevent blood clots, and physical therapy to manage joint damage.
See also[edit]
References[edit]
<references />
