Association of hereditary heparin co-factor II deficiency with thrombosis.
A family was investigated for heparin co-factor II deficiency. Three of the five members examined had had thrombosis and their levels of heparin co-factor II were reduced to 50%. All five members had antithrombin III levels within the normal range. Analysis on crossed immunoelectrophoresis showed no qualitative abnormality of patient heparin co-factor II antigen. Since heparin co-factor II activity and concentration were reduced to the same extent, the deficiency was due to reduced protein synthesis.
Tran
T H
TH
Marbet
G A
GA
Duckert
F
F
D000328:Adult; D000990:Antithrombin III / Q000032:analysis / Q000235:genetics; D020152:Antithrombin III Deficiency; D005260:Female; D006023:Glycoproteins / Q000032:analysis / Q000172:deficiency* / Q000235:genetics; D015844:Heparin Cofactor II; D006801:Humans; D007123:Immunoelectrophoresis, Two-Dimensional; D002542:Intracranial Embolism and Thrombosis / Q000097:blood / Q000235:genetics; D013927:Thrombosis / Q000097:blood / Q000235:genetics*
D006023:Glycoproteins; D015844:Heparin Cofactor II; D000990:Antithrombin III