Haemophilia is an X-linked recessive disorder that affects blood coagulation, mainly characterized by deficiencies in specific clotting factors. Notably, a significant percentage of affected individuals may not have a family history of the condition, highlighting its sporadic nature.
| 📌 Type of Haemophilia | 💡 Key Factor Deficiency | ⚠️ Symptoms |
|---|---|---|
| Haemophilia A | Factor VIII deficiency | Haemoarthroses |
| Haemophilia B | Factor IX deficiency | Haematomas |
| Prolonged bleeding after surgery or trauma |
🧪 Core Principles
Haemophilia is classified primarily into two types:
- Haemophilia A: Caused by a deficiency of factor VIII.
- Haemophilia B (also known as Christmas disease): Results from a lack of factor IX.
Both types lead to similar symptoms but vary in their underlying biochemical causes.
⚗️ Diagnosis and Testing
Diagnosis of haemophilia typically involves several blood tests:
- APTT (Activated Partial Thromboplastin Time): Prolonged in haemophilia cases.
- Bleeding time: Typically normal.
- Thrombin time: Usually normal.
- Prothrombin time: Generally normal as well.
These tests help differentiate haemophilia from other clotting disorders.
🌍 Complications
Up to 10-15% of patients with haemophilia A may develop antibodies against factor VIII treatment, which can complicate management and treatment options.
This immune response can hinder effective treatment and requires additional therapeutic strategies.