Aims: To assess the prevalence of thrombophilia among Chinese women with venous thromboembolism (VTE) developed during pregnancy.
Methods: Based on information from a tertiary teaching unit, all recorded cases of deep vein thrombosis (DVT) and pulmonary embolism (PE) during pregnancy diagnosed between 1997 and 2005, were assessed for prevalence of thrombophilia. Fifty-five healthy women, who had at least one normal pregnancy but without any previous history of VTE, were recruited as controls.
Results: A total of 44 subjects completed thrombophilia screening, of whom 5 (11%) were confirmed to have thrombophilia [protein C (PC) deficiency (2), protein S (PS) deficiency (1), combined PC & PS deficiency (1) and antithrombin III deficiency (1)]. Homozygous 5,10-methylenetetrahydrofolate reductase (C677T) gene mutation was found in 6 (14%) subjects but not in the controls. There was no antiphospholipid syndrome, activated PC resistance, factor V Leiden or prothrombin gene mutations.
Conclusion: In the Chinese population, PS and PC deficiencies are common thrombophilia for VTE during pregnancy and thrombophilia screening should be recommended in all pregnant women who suffer from VTE.
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http://dx.doi.org/10.1159/000331648 | DOI Listing |
Zhongguo Shi Yan Xue Ye Xue Za Zhi
December 2024
Jiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, NHC Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Collaborative Innovation Center of Hematology, Suzhou 215006, Jiangsu Province, China.
Objective: To study the molecular mechanism of functional defect of protein C (PC) caused by point mutations of human protein C gene ( ) N355S , G392E and T314A.
Methods: The wild-type and mutant plasmids (PC, PC, PC, PC) of gene were constructed and transiently transfected into HEK293 cells. The expression of mutant proteins in vitro were tested.
Beijing Da Xue Xue Bao Yi Xue Ban
December 2024
Department of Rheumatology and Immunology, Peking University Third Hospital, Beijing 100191, China.
Hereditary protein S deficiency (PSD) is an autosomal dominant disorder caused by mutations in the 1 gene which can cause venous thrombosis. Individuals with PSD usually present with recurrent deep vein thrombosis and/or pulmonary embolism, but thrombosis may occur at unusual sites, such as the mesenteric and portal veins. Here we report a case of hereditary protein S deficiency patient with predominant mesenteric venous thrombosis.
View Article and Find Full Text PDFMedicine (Baltimore)
December 2024
Department of Rheumatology, The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, China.
Haemophilia
December 2024
Center for Thrombosis and Hemorrhagic Diseases, IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy.
Haemophilia
December 2024
Thrombosis and Hemostasis Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China.
Introduction: Evidence-based clinical practice guidelines drive optimal patient care and facilitate access to high-quality treatment. Creating guidelines for rare diseases such as haemophilia, where evidence does not often come from randomized controlled trials but from non-randomized and well-designed observational studies and real-world data, is challenging. The methodology used for assessing available evidence should consider this critical fact.
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