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Hamostaseologie 2020; 40(05): 687-690
DOI: 10.1055/a-1145-4224
Letter to the Editor

Phenotypic and Genotypic Analysis of a Hereditary Antithrombin Deficiency Pedigree Due to a Novel SERPINC1 Mutation (p.Met281Thr)

Siqi Liu
1   Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China
,
Shasha Luo
1   Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China
,
Lihong Yang
1   Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China
,
Mingshan Wang
1   Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China
,
Yanhui Jin
1   Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China
,
Xiaolong Li
1   Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China
,
Qiyu Xu
1   Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China
› Author Affiliations Funding This work was supported by the Science and Technology Department Public Service Technology Research Program of Zhejiang Province of China under grant LGF18H080003.
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Abstract

Antithrombin (AT) is one of the physiological anticoagulants that are mainly synthesized in the liver. As a protease inhibitor belonging to the serpin superfamily, AT is able to inactivate thrombin and inhibit activated coagulation factors IX, X, XI, and XII (FIXa, FXa, FXIa, and FXIIa).[1] Moreover, it has been found that AT can inhibit activated FVII (FVIIa) by accelerating dissociation of FVIIa–tissue factor complex and preventing it from recombining.[2] The AT gene (SERPINC1), located on chromosome 1 at q23.1–23.9 and spreads 13.5 kb, is composed of seven extrons and six introns.[3] Hereditary AT deficiency is a rare thrombotic disorder caused by defects in SERPINC1 gene.[4] It is inherited in an autosomal-dominant manner with an incidence of roughly 0.02 to 0.25% in the general population and 2 to 5% in patients with a history of venous thromboembolism (VTE).[1] [5] The most common thrombotic manifestations of patients with AT deficiency are VTEs, and their risks of VTE are approximately 20 times higher than those of nondeficient individuals.[6] And the consequences of thrombophilia caused by AT deficiency are more severe than those of protein C and S protein deficiency,[2] so it should be given sufficient attention.



Publication History

Article published online:
25 May 2020

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