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factor XII deficiency; Hageman factor deficiency
asymptomatic anomaly of in vitro blood coagulation
Classification:
- a cross-reacting material (CRM)-negative group (negative factor XII antigen detection)
- CRM-positive group (positive factor XII antigen detection)
Genetics:
- autosomal recessive
- associated with defects in coagulation factor XII
Clinical manifestations:
- not associated with clinical bleeding disorder
Laboratory:
1) low plasma factor XII activity
2) prolonged aPTT
3) normal PT
Management:
- no treatment necessary
- patients deficient in factor XII can undergo surgery without risk of bleeding
Notes:
- usually only accidentally discovered through pre-operative blood tests
General
coagulation factor deficiency
Database Correlations
OMIM 234000
References
OMIM :accession 234000