1-09-08 Congenital Coagulation Factor Deficiencies
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Congenital Coagulation Factor Deficiencies
Hemophilia A – Factor 8 deficiency, sex-linked
Hemophilia B – Factor 9 deficiency, sex-linked
Hemophilia C – Factor 11 deficiency
SQ vs. IM Injections – SQ injections okay in hemophilia, IM injections are not!
Hemophilia A
• Hemophilia A – a Factor VIII deficiency, sex-linked disorder, gene mutation
o Prevalence – 1/5000 male births, 30% are de novo mutation, 70% family Hx
o Sex-Linked – on X chromosome ( sons of hemophilic M are okay, daughters obligate carriers
( sons of hemophilic F 50% hemophilic, daughters 50% carriers
• Clinical Exam – excessive bleeding after a circumcision, deep cut, dental extraction; muscle/joint bleeding
• Lab Dx – usually has prolonged aPTT test (VIII = intrinsic), but normal PT (extrinsic unaffected) & TCT
o Factor VIII Activity – after obtaining prolonged aPTT, pinpoint w/ specific assay (not 9, 11, 12)
o Factor VIII Deficiency cutoff – below 50% of normal range
• Male Severity – range from asymptomatic – severe:
o ASx, VIII > 20% - asymptomatic usually, until a major surgery or trauma
o Mild, VIII 5-10% - unlikely to spontaneously hemorrhage, but risk during trauma/surgery
o Moderate, VIII 1-5% - common soft-tissue bleeding
o Severe, VIII ................
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