Journal of Clinical Hematology. 2014, (05)

Research on a pedigree of hereditary antithrombin deficiency combined with hereditary protein C deficiencyChinese Full Text

CHENG Zhipeng;TANG Liang;LU Xuan;YU Jianming;JIAN Xiaorong;HU Yu;Institute of Hematology,Union Hospital,Tongji Medical College,Huazhong University of Science and Technology;Department of Hematology,Union Hospital,Huazhong University of Science and Technology;

Abstract: Objective:To investigate the prophylaxis and treatment of hereditary antithrombin（AT）deficiency combined with hereditary protein C（PC）deficiency,we tested the activity,antigen concentration and gene sequencing of PC,PS and AT from the proband and his relatives.Method:Blood sample were obtained from the proband and his relatives,the activity of AT and PC were measured by chromogenic substrate method.Enzyme-linked immunosorbent assay（ELISA）was used to measure the antigen concentration of AT and PC.PCR and gene sequencing were employed for mutation analysis.Result:The activity and antigen concentration of AT decreased in the proband and his mother,genetic tests showed a novel SERPINC1 mutation c.1066₁083del（p.Arg356Phe361del）.The activity and antigen concentration of PC decreased in the proband and his father,genetic tests showed a novel PROC mutation c.842A＞T（p.Asp281Val）.Conclusion:Early diagnosis and molecular analysis of AT and PC deficiency,in combination with appropriate anticoagulant treatment and monitoring,could make contribution to prevent thrombosis recurrence.And it would be a reminder for mutation carriers to prevent venous thrombosis.

Keywords：

antithrombinⅢ deficiency; protein C deficiency; venous thrombosis; pedigree;

DOI：
10.13201/j.issn.1004-2806.2014.05.005
Series：
Subject：
Classification Code：
R596

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Research on a pedigree of hereditary antithrombin deficiency combined with hereditary protein C deficiencyChinese Full Text

CHENG Zhipeng;TANG Liang;LU Xuan;YU Jianming;JIAN Xiaorong;HU Yu;Institute of Hematology,Union Hospital,Tongji Medical College,Huazhong University of Science and Technology;Department of Hematology,Union Hospital,Huazhong University of Science and Technology;

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