Haemophilia A
(Redirected from Factor VIII deficiency)
Editor-In-Chief: Prab R Tumpati, MD
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| Haemophilia A | |
|---|---|
| |
| Synonyms | Classical haemophilia, factor VIII 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 F8 gene |
| Risks | Family history |
| Diagnosis | Blood test for factor VIII activity |
| Differential diagnosis | Von Willebrand disease, Hemophilia B |
| Prevention | |
| Treatment | Factor VIII replacement therapy, desmopressin |
| Medication | |
| Prognosis | Variable, depends on severity and treatment |
| Frequency | 1 in 5,000 male births |
| Deaths | |
Haemophilia A is a genetic disorder that affects the body's ability to clot blood. It is caused by a deficiency in factor VIII, a protein that is necessary for blood clotting. This condition is typically inherited and affects males more often than females.
Symptoms
The primary symptom of Haemophilia A is prolonged bleeding. This can occur after an injury or surgery, and in severe cases, spontaneous bleeding can occur. Other symptoms can include:
- Bleeding into joints and muscles
- Blood in urine or stool
- Nosebleeds
- Bruising
- Bleeding gums
Causes
Haemophilia A is caused by a mutation in the F8 gene, which provides instructions for making factor VIII. This mutation can be inherited from a parent, or it can occur spontaneously.
Diagnosis
Diagnosis of Haemophilia A typically involves blood tests to measure the level of factor VIII in the blood. Genetic testing may also be used to identify the specific mutation causing the condition.
Treatment
Treatment for Haemophilia A typically involves replacing the missing factor VIII through infusions. Other treatments can include:
See Also
References
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Contributors: Prab R. Tumpati, MD
