Two cases of venous thromboembolism in siblings after splenectomy due to a novel PROC gene mutation

Yunfang Zhang, Bo Wang, Yuxin Bai,Anxin Wang

Thrombosis Journal(2024)

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摘要
Venous thromboembolism(VTE)is a common multifactorial disease. Anticoagulant protein deficiency is the most usual hereditary thrombophilia in the Chinese people, which includes protein C(PC), protein S and antithrombin deficiencies. A retrospective analysis was conducted on clinical manifestations, laboratory tests, genetic information, and other relevant data of siblings diagnosed with VTE in 2020 at the Department of Pediatrics of Shenzhen Second People’s Hospital. The proband, a 12-year-old female, was admitted to the hospital in December 2020 with a complaint of pain in the left lower limb for four days. The examination found that the PC activity was 53
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关键词
Venous thromboembolism,Protein C deficiency,Protein C gene,Heterozygous mutation
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