scholarly journals Five new mutations in the PROS1 gene associated with protein S deficiency in Polish patients screened for thrombophilia: efficacy of direct oral anticoagulant treatment

Author(s):  
Ewa Wypasek ◽  
Daniel P. Potaczek ◽  
Adrianna Klajmon ◽  
Angel Zúñiga ◽  
Anetta Undas
1985 ◽  
Vol 53 (02) ◽  
pp. 273-277 ◽  
Author(s):  
A W Broekmans ◽  
R M Bertina ◽  
J Reinalda-Poot ◽  
L Engesser ◽  
H P Muller ◽  
...  

SummaryProtein S, a vitamin K-dependent coagulation factor, is involved in the regulation of the anticoagulant activity of activated protein C.Using an immunoradiometric assay for total protein S in plasma we identified 14 patients (7 male and 7 female) in three unrelated Dutch families as fulfilling the criteria for an isolated protein S deficiency. In 9 patients who were not receiving oral anticoagulant treatment the mean total protein S antigen concentration was 0.50 ± 0.08 U/ml (± S.D.) and the calculated free protein S concentration was 0.15 ± 0.01 U/ml (± S.D.). In the five patients who were on oral anticoagulant treatment the mean total protein S antigen was 0.23 ± 0.05 U/ml (± S.D.).Seven of the 14 patients had a history of venous thromboembolism occurring at a mean age of 25 years and often without an apparent cause. Protein S deficiency is inherited as an autosomal dominant trait.


2013 ◽  
Vol 39 (07) ◽  
pp. 840-846 ◽  
Author(s):  
Gaia Spadarella ◽  
Domenico Prisco ◽  
Massimo Franchini ◽  
Roberta Lupoli ◽  
Matteo Di Minno ◽  
...  

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