[Constitutional dysfunction of heparin cofactor II with a tendency for venous thrombosis].
Simultaneous determination of heparin cofactor II (HC II) immunologically as antigen (HC II:Ag) and functionally as heparin cofactor (H-HC II) and as dermatan sulfate cofactor (DS-HC II) renders possible a distinction between quantitative and qualitative deficiencies. The usefulness of these methods is demonstrated in the light of a family with several heterozygotes of quantitative HC II deficiency and two unrelated heterozygote men with defective dermatan sulfate cofactor function (DS HC II) and normal HC II:Ag and H-HC II.
Marbet
G A
GA
Gerinnungs- und Fibrinolyselaboratorium, Kantonsspital Basel.
Zbinden
B
B
Duckert
F
F
D000293:Adolescent; D000328:Adult; D000991:Antithrombins / Q000502:physiology*; D003871:Dermatan Sulfate / Q000097:blood; D005260:Female; D006023:Glycoproteins / Q000172:deficiency / Q000502:physiology*; D015844:Heparin Cofactor II; D006801:Humans; D008297:Male; D008875:Middle Aged; D011655:Pulmonary Embolism / Q000503:physiopathology; D013924:Thrombophlebitis / Q000235:genetics / Q000503:physiopathology*
D000991:Antithrombins; D006023:Glycoproteins; D003871:Dermatan Sulfate; D015844:Heparin Cofactor II
Konstitutionelle Dysfunktion von Heparin-Kofaktor II mit venöser Thromboseneigung.