Haemophilia

Dr Henry Knipe and Dr Andrew Dixon et al.

Haemophilia is an inherited bleeding disorder which is X-linked recessive and therefore occurs almost exclusively in males. There are two subtypes - haemophilia A (80%) and haemophilia B (20%). 

The incidence of haemophilia A is around 1 in 5000 male births, and the incidence of haemophilia B is around 1 in 25,000-30,000 male births. 

Most patients present with bleeding during the neonatal period or with bleeding / large haematoma following minor trauma as a toddler. Haemophilia A and B are difficult to delineate clinically 6.

Haemophilia is an inheritable X-linked recessive disease 6, with 70% considered familial and 30% considered sporadic 8. It occurs when there is mutation to the F8 or F9 gene, causing haemophilia A or B respectively, on the long-arm of the X-chromosome 7

Haemophilia A
  • 80% of cases
  • F8 gene mutation
  • coagulation factor VIII deficiency or absence
  • one-third have no family history
Haemophilia B
  • a.k.a. Christmas disease
  • 20% of cases
  • F9 gene mutation
  • coagulation factor IX deficiency or absence
  • ~70% of patients have the severe form of the disease characterised by spontaneous haemorrhage or haemorrhage following minor trauma 1 
Associations

Transfusion-related diseases associated with the treatment of haemophilia include:

The hallmark of the disease is haemorrhage, particularly into joints and/or soft-tissue, with three main radiological consequences:

  • haemophilic arthropathy occurring in almost all individuals
  • haemophilic pseudotumour occurring in ~2%
  • soft tissue haematoma formation, may lead to contractures 3
  • serious life-threatening haemorrhage (intracranial, thoracic, abdominal)

Treatment depends on the type, general severity and current clinical state. Factor VIII and IX blood product concentrates and recombinant factors can be used. 

Prognosis depends on severity and on the presence or absence of transfusion related disease. HIV is a leading cause of death. Life expectancy in those without HIV is ~62 years 2.

  • ~ 15 times increased risk death from intracranial haemorrhage (~1/3 of all deaths)
  • ~ 50 times increased risk death from non-intracranial haemorrhage
Share article

Article information

rID: 9383
Section: Pathology
Synonyms or Alternate Spellings:
  • Hemophilia
  • Haemophilia
  • Haemophilia A
  • Haemophilia B
  • Hemophilia A
  • Hemophilia B
  • Christmas disease

Support Radiopaedia and see fewer ads

Cases and figures

  • Drag
    Haemophilic Arthr...
    Case 1 - T1 C+ FS
    Drag here to reorder.
  • Drag
    Haemophilic Arthr...
    Case 2
    Drag here to reorder.
  • Drag
    Haemophilic Arthr...
    Case 2
    Drag here to reorder.
  • Drag
    Case 3
    Drag here to reorder.
  • Drag
    Case 3
    Drag here to reorder.
  • Drag
    Case 4
    Drag here to reorder.
  • Drag
    Case 5 - with renal haemorrhage
    Drag here to reorder.
  • Drag
    Case 6 - elbow haemophilic arthropathy
    Drag here to reorder.
  • Updating… Please wait.
    Loadinganimation

    Alert accept

    Error Unable to process the form. Check for errors and try again.

    Alert accept Thank you for updating your details.