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Uncommon Hereditary Coagulation Disorders
Most hereditary coagulation disorders other than hemophilia are rare autosomal recessive conditions that cause disease only in homozygous people ( Screening Laboratory Test Results in Inherited Defects in Blood Coagulation). Factor XI deficiency is uncommon in the general population but common among descendants of European Jews (gene frequency about 5 to 9%). Bleeding typically occurs after significant injuries, including trauma or surgery, in people who are homozygotes or compound heterozygotes.
Severe deficiency of α 2 -antiplasmin (levels 1 to 3% of normal), the major physiologic inhibitor of plasmin, can also cause bleeding. Diagnosis is based on a specific α 2 -antiplasmin assay. ε-Aminocaproic acid or tranexamic acid is used to control or prevent acute bleeding. Heterozygous people with α 2 -antiplasmin levels of 40 to 60% of normal can occasionally experience excessive surgical bleeding if secondary fibrinolysis is extensive (eg, in patients who have released excessive amounts of urokinase-type plasminogen activator during open prostatectomy).
Screening Laboratory Test Results in Inherited Defects in Blood Coagulation
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