Haemophilia B
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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| Haemophilia B | |
|---|---|
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| |
| 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 | edit source]
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 | edit source]
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 | edit source]
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 | edit source]
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 | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
