Hemophilia
Hemophilia A & B, both are X-Linked Recessive
- If the father has hemophilia, and the mother is normal:
- All daughters are obligate carriers
- All sons are unaffected
- If the father is normal and the mother is a carrier:
- Each son has a 50% chance of getting hemophilia
- Each daughter has a 50% chance of being a carrier
Hemophilia A
- Factor VIII deficiency
- Makes up 85% of Hemophiliacs
Hemophilia B
- Factor IX deficiency (Christmas disease)
- Makes up 15% of Hemophiliacs
Hemophilia - Severity rated by factor level:
- 5-30% of normal: mild disease; symptoms after major surgery/trauma
- 1-5%: moderate; sx after more minor trauma
- < 1%: Severe; spontaneous bleeding into joints and tissue;
usually starts bleeding in the 1st
18mos
Presentation
- Primarily bleeds into joints, muscle, soft tissues
- Prolonged bleeding after circumcision (if
mom is a known a carrier, then NO circumcision until status of baby
established)
- high risk of intracranial bleeds after minor trauma, or even spontaneously
- Increased frequency of bleeds once
child begins to walk/ teething
- Can present with just increased
bruising
- Prolonged bleeding after dental procedures
- Can also get persistent hematuria
- Usually do fine with minor cuts
- see extended discussion: Presenting with swelling/hematoma
Presentation in newborns
- Most commonly present later in infancy with deep tissue bleeds once they
are more mobile
- 30% bleed after circumcision; 1-5% CNS bleed
- Any male with (+) Fhx for hemophilia needs Factor 8 and 9 levels drawn
at birth
- If dx made prenatally, infuse
factor at birth to prevent CNS bleed
Labs
- PTT prolonged (can be normal even with Factor VIII or IX deficiency, so
check levels of factor if suspicion high. Only if levels get to about 30% does
the PTT come out abnormal)
- PT normal
- Quantitative factor VIII or IX levels low
- Low factor VIII in Type A
- Low factor IX in Type B
- If factor VIII level low, must check vWF level to r/o primary vWD
(especially if only mild decrease in factor VIII level is present)
- PTT should correct, unless inhibitor present
Treatment
Factor replacement
- Achieve and maintain at ~50% if have minor bleed, ie, keep at ~30 units/
dL
- Achieve and maintain at 100% if have major bleed or surgery: ~100-150
units/ dL
- Maintain at 80-100 units/ dL for 5-7 days after
DDAVP
- Induces release of F. 8 and vWF from cells
- Only effective in milder forms of disease, because it cannot induce the
synthesis of factor, only its release
Avoid sutures
Immobilization of affected joint
Physical Therapy