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Elevated levels of soluble thrombomodulin in plasma from children with Arg 506 to Gln mutation in the factor V gene
Author(s) -
NowakGÖttl U.,
Vielhaber H.
Publication year - 1997
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.1997.tb01410.x
Subject(s) - thrombomodulin , protein c , mutation , coagulation , factor v , thrombin , gene mutation , medicine , protein s , endocrinology , gene , microbiology and biotechnology , immunology , biology , genetics , thrombosis , platelet
To find out to what extent the Arg 506 to Gln mutation in the factor V gene affects the defence system against thromboemboüsm we investigated soluble thrombomodulin, protein C, protein S along with thrombin generation and d ‐dimer formation in 188 children. Children with the Arg 506 to Gln mutation in the factor V gene ( n = 48) showed significantly elevated thrombomodulin concentrations compared to nonaffected brothers and sisters ( n = 50; p = 0.001) and age‐matched healthy controls ( n = 90; p < 0.0001). In addition, thrombin generation and d ‐dimer formation were significantly elevated in children with the mutation. In contrast, protein C and total protein S antigen levels were no different in the populations tested. Thus, with respect to thrombomodulin being a potent inhibitor of coagulation activation, the present data might be interpreted as a counter‐regulatory mechanism in infants and children with the Arg 506 to Gln mutation in the factor V gene, maintaining the coagulation balance. The role of TM and other proteins involved in the coagulation balance in children and adults homozygous for the Arg 506 to Gln mutation in the factor V gene remains to be clarified.