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

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.
AuthorsF W Leebeek, J Stibbe, E A Knot, C Kluft, M J Gomes, M Beudeker
JournalThrombosis and haemostasis (Thromb Haemost) Vol. 59 Issue 1 Pg. 96-100 (Feb 25 1988) ISSN: 0340-6245 [Print] Germany
PMID3363537 (Publication Type: Case Reports, Journal Article)
Chemical References
  • alpha-2-Antiplasmin
  • Plasminogen
Topics
  • Adult
  • Female
  • Fibrinolysis
  • Genetic Carrier Screening
  • Hemostasis
  • Heterozygote
  • Humans
  • Pedigree
  • Plasminogen (metabolism)
  • alpha-2-Antiplasmin (deficiency)

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