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Case Study#6

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Factor X Deficiency

  • Congenital or Acquired

  • Congenital: autosomal recessive

  • Variable bleeding tendency at any age
    - Severe (<1%): umbilical stump bleeding
    - Less severe: post-hemostatic challenge
    - Mildly affected: bruising, menorrhagia


Heterozygotes (1:500 incidence)

  • Usually asymptomatic

  • Rarely have bleeding thought to be 2° to either:
    - Insufficient enzymatic activity of wild type
    - Inhibitory or competitive effect of mutant

Homozygotes (1:1,000,000)

  • One of the rarest inherited clotting disorders

  • Patients are usually seriously affected

  • More frequent in consanguineous marriages




 

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Page last revised: July 8, 2008