[Thrombophilia caused by a type II protein-C defect].
It is reported on the first cases of protein C deficiency of type II detected in the GDR. This type of the defect is characterized by a normal antigen content in definitely decreased activity of protein C. Among 29 patients who became evident due to spontaneous and/or relapsing thromboses, the defect was found in 6 cases. In family investigations further asymptomatic carriers of characteristics were found in two families not related to each other. The clinical consequences are discussed.
Vogel
G
G
Abteilung für Hämostaseologie, Medizinischen Akademie Erfurt.
Machulik
M
M
Lauten
G
G
D000293:Adolescent; D000328:Adult; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008875:Middle Aged; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency; D012008:Recurrence; D013927:Thrombosis / Q000235:genetics*
D011486:Protein C
Thrombophilie infolge eines Protein-C-Defektes vom Typ II.