Mild haemostatic problems associated with congenital heterozygous alpha 2-antiplasmin deficiency

Thromb Haemost. 1988 Feb 25;59(1):96-100.

Abstract

A Dutch family, of which 13 members are heterozygotes, deficient for alpha 2-antiplasmin (alpha 2-AP) is reported. Clinical studies showed that 2 heterozygotes had a mild bleeding tendency, which presented as bleeding episodes after tooth extraction and after surgery and, in one patient, also as excessive menstruation. Laboratory investigations revealed an alpha 2-AP activity of 62% (51-71) (median and range) and an antigen level of 60% (60-66). The plasminogen binding as well as the fibrin binding properties of alpha 2-AP were normal. Plasminogen concentrations were significantly higher in the heterozygotes compared to the other family members. However, free plasminogen not bound to histidine-rich glycoprotein was not significantly different between these two groups. We propose that in this family the deficiency of alpha 2-AP is due to a decreased synthesis of a normal alpha 2-AP molecule. This present study brings the frequency of heterozygous alpha 2-AP deficient patients with a bleeding tendency to 13 out of 59 heterozygotes reported in the literature.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Fibrinolysis
  • Genetic Carrier Screening
  • Hemostasis*
  • Heterozygote*
  • Humans
  • Pedigree
  • Plasminogen / metabolism
  • alpha-2-Antiplasmin / deficiency*

Substances

  • alpha-2-Antiplasmin
  • Plasminogen