[A survey of 20 inherited protein C deficiencies in the patients with venous thromboembolism].
[A survey of 20 inherited protein C deficiencies in the patients with venous thromboembolism].
To investigate the incidence of inherited protein C deficiency in the patients with venous thromboembolism (VTE).From Apr. of 2010 to Apr. of 2011, 106 patients with VTE totally from Renji hospital were surveyed by a series of laboratory tests including clinical biochemistry tests, coagulation factors activities and anticoagulation factors activities. PROC gene mutations were screened by PCR-direct sequencing in the 20 patients with decreased PC activity.Among the 20 patients with decreased PC activity, the median activity of factor II, V, VII, VIII, IX, X, XI, XII were 97.0%, 199.9%, 105.5%, 254.7%, 106.4%, 150.4%, 123.1%, 89.9%, respectively.6 PROC gene mutations were found in 11 patients. Six patients have the same point mutation (c.565C > T), the other five mutations were c.508G > T, c.524G > A, c.1174G > A, c.1157T > C, c.577-579del. All of the six mutations were heterozygous, while the c.508G > T, c.524G > A and c.1157T > C were novel in the world.In this study, we found that PC deficiency is the major inherited risk factor of VTE. The most common PROC mutation identified in this study was heterozygous c.565C > T missense mutation., c.508G > T, c.524G > A and c.1157T > C were novel PROC mutation. The activities of factor V and VIII were elevated dramatically among VTE patients, which may be correlated to the disease.
- Renji Hospital China (People's Republic of)
- Shanghai Jiao Tong University China (People's Republic of)
Adult, Aged, 80 and over, Male, Adolescent, Protein C Deficiency, Venous Thromboembolism, Middle Aged, Blood Coagulation Factors, Young Adult, Humans, Point Mutation, Female, Aged, Protein C
Adult, Aged, 80 and over, Male, Adolescent, Protein C Deficiency, Venous Thromboembolism, Middle Aged, Blood Coagulation Factors, Young Adult, Humans, Point Mutation, Female, Aged, Protein C
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