A novel missense mutation in the human plasmin inhibitor (alpha2-antiplasmin) gene associated with a bleeding tendency.

Heterozygosity for a G --> A mutation converting Val384(GTG) to Met(ATG) associated with plasmin inhibitor (alpha2-antiplasmin) deficiency was identified in three family members with bleeding tendency. The proband had traumatic breast haematoma and per-/postoperative bleeds. An affected daughter required a blood transfusion after a normal delivery and a son… CONTINUE READING