Haemophilia A
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| Haemophilia A | |
|---|---|
| File:Protein F8 PDB 1d7p.png | |
| 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[edit]
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[edit]
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[edit]
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[edit]
Treatment for Haemophilia A typically involves replacing the missing factor VIII through infusions. Other treatments can include:
See Also[edit]
References[edit]
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