Thrombophilia Caused by Beta2-Glycoprotein I Deficiency: In Vitro Study of a Rare Mutation in APOH Gene

• Published in: Current medical science Vol. 38; no. 2; pp. 379 - 385
• Main Authors: Zhang, Xiao-ping, Zeng, Wei, Liu, Hui, Tang, Liang, Wang, Qing-yun, Cheng, Zhi-peng, Wu, Ying-ying, Hu, Bei, Shi, Wei, Hu, Yu
• Format: Journal Article
• Language: English
• Published: Wuhan Huazhong University of Science and Technology 01.04.2018; Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology,Wuhan 430022, China; Hubei Clinical and Research Center of Thrombosis and Hemostasis, Wuhan 430022, China%Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology,Wuhan 430022, China; Department of Radiotherapy and Chemotherapy, Zhongnan Hospital of Wuhan University, Wuhan 430071, China%Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology,Wuhan 430022, China; Department of Radiotherapy and Chemotherapy, Zhongnan Hospital of Wuhan University, Wuhan 430071, China%Hubei Clinical and Research Center of Thrombosis and Hemostasis, Wuhan 430022, China; Hubei Clinical and Research Center of Thrombosis and Hemostasis, Wuhan 430022, China; Department of Hematology, Renmin Hospital of Wuhan University, Wuhan 430060, China%Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology,Wuhan 430022, China
• Subjects: Medicine; Medicine & Public Health; mutation; thrombophilia; lupus anticoagulant; apolipoprotein H; beta2-glycoprotein I; beta2-glycoprotein

Summary This study aimed to explore the mechanism of a novel mutation ( p.Lys38Glu ) in apolipoprotein H (APOH) gene causing hereditary beta2-glycoprotein I (β2GPI) deficiency and thrombosis in a proband with thrombophilia. The plasma level of β2GPI was measured by ELISA and Western blotting, and an...