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Haematopoietic Disorders

  • Combined incidence is 1 in 10 000 male births

Haemophilia A (Classic haemophilia)  

 
  • Deficiency of factor VIII 
  • Most common of severe disorders 
  • X-linked recessive inheritance 
  • Only affects males. Carried by females.  30% are new mutations (very high cf. Other inherited diseases) 
  • Severity varies depending on level of clotting factor  VIII:
    • 50% - normal  
    • 25-50% - seldom have problems 
    • 5-25 % - severe bleeding with operations (mild) 
    • 1-5 % - severe bleeding after minor injury (moderate) 
    • <1% - spontaneous bleeding (severe) 
  •  50% of known haemophiliacs are moderate or severe  
  • 5% of patients develop antibodies to factor VIII 
  • Very difficult to treat.  Infused factors are destroyed 

Christmas disease

  • Deficiency of factor IX 
  • Less common 
  • Also X-linked recessive inheritance 
  • Similar spectrum of severity 
  • Deficiency of factor IX 
  • Less common 
  • Also X-linked recessive inheritance 
  • Similar spectrum of severity 

    Von Willebrand's disease

    • Deficiency of von Willebrand factor 
    •  Autosomal dominant inheritance
  • Deficiency of von Willebrand factor 
  •  Autosomal dominant inheritance

    Clinical Presentation 

     
    • Male with positive family history
    • May present after circumcision; Otherwise first bruising appears at 3-4 months; Severe bruising at walking age; May be spontaneous haemarthroses; Milder forms may present after dental extraction or operative procedure
    • Bleeding In the form of: 
      • Bruises 
      • Muscle haematomas 
      • Haemarthroses 
      • May occur some time after injury 
    • Defect is in clot formation (2nd phase) rather than haemostasis (1st phase) (See Coagulation)
    • May be no known trauma

    HIV  

      
    • 70% of haemophiliacs who have received pooled untreated factor VIIII preparations are HIV positive 
    • 90% of severe haemophiliacs are HIV positive


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