scholarly journals A case of congenital prothrombin deficiency with two concurrent mutations in the prothrombin gene

Author(s):  
Eman M. Mansory ◽  
Pratibha Bhai ◽  
Alan Stuart ◽  
Lori Laudenbach ◽  
Bekim Sadikovic ◽  
...  
Keyword(s):  
1997 ◽  
Vol 78 (03) ◽  
pp. 0990-0992 ◽  
Author(s):  
Andreas Hillarp ◽  
Bengt Zӧller ◽  
Peter J Svensson ◽  
Bjӧrn Dahlbäck

SummaryA dimorphism in the 3’-untranslated region of the prothrombin gene (G to A transition at position 20210) has recently been reported to be associated with increases in plasma prothrombin levels and in the risk of venous thrombosis (1). We have examined the prothrombin dimorphism among 99 unselected outpatients with phlebography verified deep venous thrombosis, and in 282 healthy controls. The prevalence of the 20210 A allele was 7.1% (7/99) in the patient group, and 1.8% (5/282) in the healthy control group (p = 0.0095). The relative risk of venous thrombosis was calculated to be 4.2 (95% Cl, 1.3 to 13.6), and was still significant when adjustment was made for age, sex and the factor V:R506Q mutation causing APC resistance [odds ratio 3.8 (95% Cl, 1.1 13.2)]. As previously reported, 28% of the patients were carriers of the factor V:R506Q mutation. Thus, 34% (one patient carried both traits) of unselected patients with deep venous thrombosis were carriers of an inherited prothrombotic disorder. To sum up, our results confirm the 20210 A allele of the prothrombin gene to be an important risk factor for venous thrombosis.


Blood ◽  
1998 ◽  
Vol 91 (6) ◽  
pp. 2210-2211 ◽  
Author(s):  
Bengt Zöller ◽  
Peter J. Svensson ◽  
Björn Dahlbäck ◽  
Andreas Hillarp

2006 ◽  
Vol 118 (6) ◽  
pp. 767-768 ◽  
Author(s):  
W. Craig Hooper ◽  
Stacy Roberts ◽  
Nicole Dowling ◽  
Harland Austin ◽  
Cathy Lally ◽  
...  

1988 ◽  
Vol 200 (1) ◽  
pp. 31-45 ◽  
Author(s):  
David M. Irwin ◽  
Katherine A. Robertson ◽  
Ross T.A. MacGillivray
Keyword(s):  

2002 ◽  
Vol 107 (1-2) ◽  
pp. 7-11 ◽  
Author(s):  
I Gouin-Thibault ◽  
R Arkam ◽  
S Nassiri ◽  
A de la Tourette ◽  
J Conard ◽  
...  

1999 ◽  
Vol 19 (3) ◽  
pp. 700-703 ◽  
Author(s):  
Ida Martinelli ◽  
Emanuela Taioli ◽  
Paolo Bucciarelli ◽  
Sepideh Akhavan ◽  
Pier Mannuccio Mannucci

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