Haemophilia is an X-linked recessive clotting disorder that is commonly diagnosed in infant males with haemorrhage or prolonged bleeding time. Symptoms are rarely seen in women due to their heterozygosity.
Classification of haemophilia
| Classification | Description |
|---|---|
| Haemophilia A (classic haemophilia) | X-linked recessive deficiency of factor VIII |
| Haemophilia B (Christmas disease) | X-linked recessive deficiency of factor IX |
| Haemophilia C (Rosenthal syndrome) | Autosomal recessive deficiency of factor XI |
Classification of haemophilia according to severity
| Classification | Description |
|---|---|
| Mild | 5 – 10% of normal clotting factor levels |
| Moderate | 1 – 5% of normal clotting factor levels |
| Severe | < 1% of normal clotting factor levels. This makes up almost half of the cases. |
- Signs and symptoms
- Haemarthrosis
- 80% of haemorrhages in patients with haemophilia
- Painful, erythematous, stiff, and swollen joint
- Affects the knees, ankles and elbows
- Requires temporary immobilisation
- Ecchymosis
- Easy bruising
- No clear trauma
- Prolonged bleeding after circumcision, surgery, or a dental procedure
- Muscular haematoma
- 15% of haemorrhages in patients with haemophilia
- Can cause compartment syndrome
- Epistaxis
- Melaena and haematemesis
- Common in older patients
- Intracranial bleeding in neonates
- Haemarthrosis
- Differentials
- von Willebrand disease
- Platelet dysfunction disorders
- Scurvy
- Ehlers-Danlos syndrome
- Disseminated intravascular coagulopathy
- Investigations
- Complete blood count for anaemia and thrombocytopaenia
- aPTT
- Prolonged
- PT to rule out extrinsic and common coagulation pathway pathologies
- Normal
- Liver function tests to rule out liver synthesis dysfunction
- Mixing studies: the sample plasma is mixed with normal plasma for two hours
- aPTT corrects in inherited clotting factor deficiency
- aPTT will not correct in acquired haemophilia due to clotting factor antibodies
- Factor VIII and IX assays
- Factor VIII and IX gene mutation analysis
- vWF antigen testing to rule out von Willebrand disease
- Imaging for haematomas
- Treatment
- Avoid contact sports
- Avoid NSAIDs and intramuscular injections
- Physiotherapy
- Pressure and elevation of musculocutaneous injuries
- Recombinant factor VIII and factor IX concentrates
- A patient may receive 1 – 3 infusions per week, for a minimum of 45 weeks in the year
- Antibodies are more likely to develop in haemophilia A than in haemophilia B
- Can also be given during acute bleeding or as prophylaxis
- Desmopressin for acute bleeding in mild haemophilia A
- Transiently increases factor VIII levels
- Tranexamic acid can be considered for severe haemorrhage
- Complications
- Tranfusion-related infections, e.g. HIV and hepatitis C
- Compartment syndrome
- Arthropathy
- Intracranial and gastrointestinal haemorrhage