Mild haemostatic problems associated with congenital heterozygous alpha 2-antiplasmin deficiency.
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.
Leebeek
F W
FW
Department of Haematology, University Hospital Dijkzigt, Rotterdam, The Netherlands.
Stibbe
J
J
Knot
E A
EA
Kluft
C
C
Gomes
M J
MJ
Beudeker
M
M
D000328:Adult; D005260:Female; D005342:Fibrinolysis; D006580:Genetic Carrier Screening; D006487:Hemostasis; D006579:Heterozygote; D006801:Humans; D010375:Pedigree; D010958:Plasminogen / Q000378:metabolism; D000979:alpha-2-Antiplasmin / Q000172:deficiency*
D000979:alpha-2-Antiplasmin; D010958:Plasminogen