Haemophilia

Question 1

Pathphysiology

Answer 1

• x-linked recessive
• haem A - factor VIII def
• haem B- - factor IX def
• female carriers - risk of bleeding (50% of normal factor levels)
• male carriers - worse prognosis as single x-chromosome

Question 2

Diagnosis

Answer 2

• normal plt and PT
• prolonged APTT
• low factor VIII or IX level

Question 3

Mx in preg

Scenario 1 - 27 G1P0, haemophilia carrier (asx) on bkg of strong FHx

Answer 3

• M risk - APH/PPH
• F risk - inheritance - esp male fetus
• Tertiary care
• MDI - MFM/Haem/Genetics/Paeds/Ano
• USS or NIPT to determine gender
• check factor lvl invasive procedure
• +/- CVS/Amnio if male fetus +/- TOP
• Timing/MOD - obs indication
• IP
  1. check factor lvl pre-labor
  2. no FSE/FBS/VE, avoid NBFD
  3. replace factors as needed
  4. cord blood (clotting factor assay)
  5. active 3rd stage
• PP
  1. routine - BF/contraception/VTE
  2. observe for primary PPH
  3. paeds rv +/- cranial USS/factor replace/no heel prick/IM injection/oral Vit K

Question 4

Choice of MOD in male fetus with confirmed haemophilia A

Answer 4

• depends on urgency/parental pref
• low station lift out with NB>full CS
• full CS > mid-cavity NB