Overview

Haemophilia is an X-linked recessive disorder leading to impaired coagulation. There are two main types:

  • Haemophilia A – deficiency of factor VIII
  • Haemophilia B (Christmas disease) – deficiency of factor IX

Epidemiology

  • Haemophilia A is 5 times more common than haemophilia B

Risk Factors

  • Family history
  • Male sex

Example History

An 18-year-old man has recurrent and heavy nosebleeds and painful joints. In the past, he has had prolonged stays at hospital following surgery.

Investigations:

Haemoglobin:145 g/L(130 – 180 g/L)
Platelets:170 x 109/L(150 – 450 x 109/L)
White blood cells (WBC):6.6 x 109/L(3.0 – 10.0 x 109/L)
Prothrombin time (PT):10 s(10 – 12 s)
Activated partial thromboplastin time (APTT):84 s(22 – 41 s)

Presentation

Patients usually have a history of recurrent or severe bleeding. Features are:

  • Recurrent/severe bleeding that can be spontaneous or trauma-induced
  • Haemarthrosis – a common feature, joint pain and swelling due to bleeding into joints
  • Muscular pain due to bleeding into muscles
  • Epistaxis and gum bleeding when brushing teeth
  • Easy bruising

Differential Diagnoses

Von Willebrand disease (vWD)

  • vWD is inherited in an autosomal dominant manner, haemophilia A and B are x-linked recessive
  • Patients with vWD have normal factor VIII and factor IX levels

Investigations

All patients

  • Full blood count (FBC):
    • Usually normal, there can be anaemia if there is severe/prolonged bleeding
  • Coagulation screen:
    • Prothrombin time (PT): normal
    • Activated partial thromboplastin time (APTT): prolonged
    • Bleeding time: normal
    • Thrombin time: normal
  • Factor VIII and IX assay:
    • Factor VIII reduced in haemophilia A
    • Factor IX reduced in haemophilia B

Management

Overview

Treatment includes:

  • 1st-line: factor concentrate (either factor VIII for haemophilia A, or factor IX for haemophilia B)
  • In acute bleeds: fresh frozen plasma (FFP)

Monitoring

  • Patients often have their factor VIII or IX monitored regularly

Patient Advice

  • Patients should avoid NSAIDs and antiplatelets
  • Patients should try to avoid contact sports and risky activities where bleeding could potentially occur
  • Patients should be counselled regarding the inheritance of haemophilia
  • Patients should wear emergency identification bracelets to helpers identify they have haemophilia if there is trauma or haemorrhage

Complications

  • Degenerative joint disease due to recurrent haemarthrosis
  • Formation of antibodies to factor VIII treatment
  • Life-threatening haemorrhage
  • Anaemia

Prognosis

  • People with haemophilia have near-normal life expectancies with the use of recombinant factor VIII and IX

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