2,979 results match your criteria Antithrombin Deficiency


Thrombin generation capacity is enhanced by low antithrombin activity and depends on the activity of the related coagulation factors.

Thromb J 2022 May 18;20(1):29. Epub 2022 May 18.

Sysmex Corporation, 4-4-4 Takatsukadai, Nishi-ku, Kobe, 651-2271, Japan.

Background: Supplementation with antithrombin (AT) concentrates is now common in the treatment of congenital and acquired AT deficiency. However, there is no established consensus on the target and timing of supplementation. We aimed to elucidate the effects of AT deficiency on the balance between coagulation activation and inhibition using a thrombin generation assay as in vitro global assay. Read More

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Peripartum management of hereditary thrombophilia: results of primary surveillance in Japan.

Int J Hematol 2022 May 12. Epub 2022 May 12.

Department of Laboratory Sciences, College of Medical, Pharmaceutical and Health Sciences, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan.

This study investigated patients with thrombophilia and current peripartum management practices based on national surveillance in Japan. Between 2014 and 2018, antithrombin (AT), protein C (PC) and protein S (PS) deficiency were observed in 84, 67, and 443 pregnancies, respectively, with incidence rates among total deliveries at 0.012%, 0. Read More

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Pre-operative Hemostatic Status in Dogs Undergoing Splenectomy for Splenic Masses.

Front Vet Sci 2022 25;9:686225. Epub 2022 Apr 25.

Department of Clinical Sciences, Cummings School of Veterinary Medicine, Tufts University, Grafton, MA, United States.

Portal system thrombosis is a rare but potentially fatal complication of splenectomy in dogs. The mechanism behind development of post-operative portal system thrombosis is unclear but may include alterations of portal blood flow following surgery, acquired hypercoagulability and endothelial dysfunction. The aim of the study was to evaluate hemostatic biomarkers in hemodynamically stable (heart rate <130 beats/min, blood lactate < 2. Read More

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Antithrombin III level in children with nephrotic syndrome, its correlation to thromboembolic complications, and serum albumin level.

Saudi J Kidney Dis Transpl 2021 Sep-Oct;32(5):1283-1288

Department of Pediatrics, Faculty of Medicine, Fayoum University, Fayoum, Egypt.

Nephrotic syndrome (NS) is one of the most common pediatric diseases with many complications. Thromboembolic complication is the most serious complication. The aim of this study was to predict the possible risk of thromboembolic complication development in children with NS due to antithrombin III deficiency. Read More

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Catheter-directed thrombolysis for massive deep vein thrombosis in an adolescent with severe antithrombin deficiency.

Clin Case Rep 2022 Apr 26;10(4):e05681. Epub 2022 Apr 26.

Department of Clinical Biochemistry Aarhus University Hospital Aarhus Denmark.

In this case report we describe a case of massive deep vein thrombosis in an adolescent. The case was complicated by severe antithrombin deficiency caused by a previously unreported mutation. We discuss the use of catheter directed thrombolysis and (F)Xa inhibitors in children and adolescents. Read More

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Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays.

Blood 2022 Apr 29. Epub 2022 Apr 29.

Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.

Antithrombin deficiency, the most severe congenital thrombophilia, might be underestimated, as some pathogenic variants are not detected by routine functional methods. We have identified two new SERPINC1 variants, p.Glu227Lys and p. Read More

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Genetic Analysis of a Pedigree With Antithrombin and Prothrombin Compound Mutations and Antithrombin Heterozygotes.

Front Genet 2022 4;13:832582. Epub 2022 Apr 4.

Department of Clinical Laboratory, The First Hospital of Jiaxing, The Affiliated Hospital of Jiaxing University, Jiaxing, China.

Antithrombin (AT) is the most important physiological inhibitor , and coagulation factor II (FII) or prothrombin is a coagulation factor vital to life. The purpose of our research was to illustrate the connection between gene mutations and the corresponding deficiencies of AT and FII. Functional and molecular analyses were performed. Read More

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NLRP3 inflammasome contributes to endotoxin-induced coagulation.

Thromb Res 2022 Apr 8;214:8-15. Epub 2022 Apr 8.

Department of Hematology and Critical Care Medicine, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China. Electronic address:

Introduction: Excessive activation of the coagulation cascades leads to life-threatening disseminated intravascular coagulation (DIC) in sepsis. Two recent studies by our group and others have both demonstrated the noncanonical inflammasome is pivotal for the endotoxin or gram-negative bacterial-induced coagulation. Based on this, we further evaluated the function of the NLRP3 inflammasome, the most studied inflammasome, in endotoxin-induced coagulation. Read More

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Cardiac Arrest Due to Pulmonary Embolism After Posterior Spinal Fusion in a Patient With Acute Paraplegia Caused by a Metastatic Spinal Tumor Associated With Congenital Antithrombin III Deficiency.

Cureus 2022 Feb 26;14(2):e22618. Epub 2022 Feb 26.

Orthopaedic Surgery, Faculty of Medicine, University of Tsukuba, Tsukuba, JPN.

Congenital antithrombin (AT) III deficiency has a high incidence of deep vein thrombosis and pulmonary embolism due to reduced anticoagulation. In this study, we report a case of a patient who experienced cardiac arrest due to pulmonary embolism after emergency posterior spinal fusion for acute paraplesia due to a metastatic spinal tumor associated with AT III deficiency. A 49-year-old man with a history of familial AT III deficiency visited our hospital due to difficulty in walking caused by a progressive paralysis of the lower limbs. Read More

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February 2022

Prevention of venous thromboembolism in pregnant women with congenital antithrombin deficiency: a retrospective study of a candidate protocol.

Int J Hematol 2022 Mar 22. Epub 2022 Mar 22.

Department of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

Background: The best thromboprophylaxis for pregnant women with congenital antithrombin deficiency (CAD) is controversial.

Objective: To clarify the effectiveness of a protocol for venous thromboembolism (VTE) prevention in pregnant women with CAD.

Methods: Women at high risk of VTE were administered antithrombin concentrate and heparin after conception, whereas those at low risk of VTE were administered heparin alone until delivery. Read More

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High Prevalence of Plasminogen Activator Inhibitor-1 4G/5G Polymorphism among Patients with Venous Thromboembolism in Kerala, India.

Hamostaseologie 2022 Mar 7. Epub 2022 Mar 7.

Centre for Nanosciences and Molecular Medicine, Amrita Vishwa Vidyapeetham, Kochi, Kerala, India.

Venous thromboembolism (VTE) is a multifactorial clotting disorder in which inherited and environmental factors synergistically contribute to its pathogenesis. The aim of this case-control study was to analyze the prevalence of hereditary thrombophilic risk factors, provoking and non-provoking environmental risk factors in patients with VTE from Kerala, India. We have observed a low prevalence of factor V Leiden (7%), prothrombin G20210A (2%), and prothrombin G20030A (2%) mutations and a high prevalence of plasminogen activator inhibitor-1 () 4G/5G (52%), 4G/4G (24%) genotypes in the VTE patients ( = 147). Read More

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[Clinical manifestations and gene analysis of 18 cases of hereditary protein S deficiency].

Zhonghua Xue Ye Xue Za Zhi 2022 Jan;43(1):48-53

State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.

To analyze the clinical manifestations and molecular pathogenesis of 18 patients with inherited protein S (PS) deficiency. Eighteen patients with inherited PS deficiency who were admitted to the Institute of Hematology & Blood Diseases Hospital from June 2016 to February 2019 were analyzed: activity of protein C (PC) and antithrombin (AT) , PS activity were measured for phenotype diagnosis; high throughput sequencing (HTS) was used for screening of coagulation disease-related genes; Sanger sequencing was used to confirm candidate variants; Swiss-model was used for three-dimensional structure analysis. The PS:C of 18 patients ranged from 12. Read More

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January 2022

Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency.

J Mol Diagn 2022 May 23;24(5):462-475. Epub 2022 Feb 23.

Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, Instituto Murciano de Investigación Biosanitaria, Centro de Investigación Biomédica en Red de Enfermedades Raras, Murcia, Spain. Electronic address:

Inherited antithrombin deficiency, the most severe form of thrombophilia, is predominantly caused by variants in SERPINC1. Few causal structural variants have been described, usually detected by multiplex ligation-dependent probe amplification or cytogenetic arrays, which only define the gain or loss and the approximate size and location. This study has done a complete dissection of the structural variants affecting SERPINC1 of 39 unrelated patients with antithrombin deficiency using multiplex ligation-dependent probe amplification, comparative genome hybridization array, long-range PCR, and whole genome nanopore sequencing. Read More

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Assessment of risk factors for deep vein thrombosis associated with natural anticoagulants and fibrinolytic regulatory proteins.

Blood Coagul Fibrinolysis 2022 Mar 2. Epub 2022 Mar 2.

Department of Clinical Laboratory Sciences, College of Applied Medical Sciences-AlQurayyat, Jouf University, Saudi Arabia Thrombosis and Vascular Diseases Laboratory, School of Health and Biomedical Sciences, RMIT University, Victoria, Australia Department of Medical Laboratory Technology, College of Applied Medical Sciences, Northern Border University, Saudi Arabia Department of Hematology, Faculty of Medical Laboratory Sciences, Al Neelain University, Khartoum, Sudan.

Deep vein thrombosis (DVT) is a critical condition and a potential cause of mortality and morbidity in Africa and worldwide with a high recurrence rate. The study was designed to assess the roles of natural anticoagulants and fibrinolytic regulatory factors in the development of DVT in Sudanese patients. A case-control study was conducted in Omdurman Teaching Hospital, Khartoum State over a period of 1 year. Read More

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Benefit Profile of Thrombomodulin Alfa Combined with Antithrombin Concentrate in Patients with Sepsis-Induced Disseminated Intravascular Coagulation.

Clin Appl Thromb Hemost 2022 Jan-Dec;28:10760296221077096

Department of Critical and Intensive Care Medicine, 13051Shiga University of Medical Science, Seta, Tsukinowa-cho, Otsu, Shiga, Japan.

Thrombomodulin alfa (TM-α, recombinant human soluble thrombomodulin) and antithrombin (AT) concentrate are anticoagulant agents for the treatment of disseminated intravascular coagulation (DIC). A post hoc analysis using data from 1198 patients with infection-induced DIC from the post-marketing surveillance of TM-α was conducted. To identify subgroups that benefit from combination therapy, the patients were a priori stratified into four groups by a platelet (Plt) count of 50 × 10/μL and plasma AT level of 50% (groups 1, 2, 3, and 4, with high Plt/high AT, high Plt/low AT, low Plt/high AT, and low Plt/low AT, respectively). Read More

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Inherited Thrombophilia in the Era of Direct Oral Anticoagulants.

Int J Mol Sci 2022 Feb 5;23(3). Epub 2022 Feb 5.

Service d'Hématologie Biologique, Assistance Publique Hôpitaux de Paris-Centre (AP-HP.CUP), F-75015 Paris, France.

Severe inherited thrombophilia includes rare deficiencies of natural anticoagulants (antithrombin and proteins C and S) and homozygous or combined factor V Leiden and FII G20210A variants. They are associated with a high thrombosis risk and can impact the duration of anticoagulation therapy for patients with a venous thromboembolism (VTE) event. Therefore, it is important to diagnose thrombophilia and to use adapted anticoagulant therapy. Read More

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February 2022

Analysis of the Coagulation Profile in Children with HIV Infection-Effect of Disease and Anti Retroviral Therapy.

Indian J Hematol Blood Transfus 2022 Jan 5;38(1):132-137. Epub 2021 May 5.

Department of Pathology, HIMSR and HAHC Hospital, New Delhi, India.

The pathogenesis of hypercoagulability in HIV infection is multifactorial and usually more than one factor is responsible for a thromboembolic episode. The present study was conducted to evaluate the effect of HIV infection and antiretroviral therapy on various coagulation parameters in paediatric patients. Forty two newly diagnosed paediatric patients with HIV infection who were enrolled at the Anti-Retro viral Therapy (ART) centre of Kalawati Saran Children's Hospital were included in the study. Read More

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January 2022

Reference interval of antithrombin, protein C, and protein S activities in healthy adults in Iran, the effect of age, sex, oral contraceptive intake, and menopause.

Int J Lab Hematol 2022 Feb 2. Epub 2022 Feb 2.

Department of Hematology and Blood Banking, Faculty of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.

Background: Antithrombin (AT), protein C (PC), and protein S (PS) are natural anticoagulant proteins that deficiency in each of them is associated with an increased risk of venous thromboembolism.The overlapping of plasma levels of AT, PC, and PS between healthy individuals and heterozygote carriers poses significant challenges in precise diagnosis. This study aimed to evaluate the effect of most influencing variables on plasma levels of these proteins and propose specific reference intervals to improve the interpretation of the laboratory results. Read More

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February 2022

Patients with SERPINC1 rs2227589 polymorphism found to have multiple cerebral venous sinus thromboses despite a normal antithrombin level: A case report.

World J Clin Cases 2022 Jan;10(2):618-624

Department of Neurology, Affiliated Hospital of Guangdong Medical University, Zhanjiang 524001, Guangdong Province, China.

Background: The hereditary antithrombin (AT) deficiency caused by SERPINC1 gene mutation is an autosomal dominant thrombotic disorder. An increasing number of studies have shown that mutations in the SERPINC1 rs2227589 polymorphic site are correlated with a risk of venous thromboembolism (VTE) at common sites, such as lower extremity deep venous thrombosis and pulmonary thromboembolism. Currently, there are no reports of cerebral venous sinus thrombosis (CVST), a VTE site with a low incidence rate and rs2227589 polymorphism. Read More

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January 2022

Epidemiology, diagnosis and management of neonatal thrombosis: a single-center cohort study.

Blood Coagul Fibrinolysis 2022 Mar;33(2):83-89

Division of Pediatric Hematology/Oncology, Department of Pediatrics, McMaster Children's Hospital.

The incidence of neonatal venous and arterial thrombosis ranges from 6.9 to 15/1000 neonatal ICU (NICU) admissions, and is likely an underestimate based on population demographics, frequency of surveillance and vascular catheterization. This retrospective study involving 234 infants reviewed the epidemiology, diagnosis, and management of neonatal thrombosis in a single, tertiary care institution over more than 10 years. Read More

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Generation of a human iPSC line ZZUNEUi014-A from a patient with antithrombin deficiency caused by mutation in SERPINC1 gene.

Stem Cell Res 2021 Dec 28;59:102646. Epub 2021 Dec 28.

Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China; Henan Key Laboratory of Hereditary Cardiovascular Diseases, Zhengzhou 450052, China; Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, National Clinical Research Centre for Cardiovascular Diseases, No. 2 Beijing Anzhen Road, Chaoyang District, Beijing 100029, China. Electronic address:

Inherited antithrombin (AT) deficiency is an autosomal dominant disorder associated with SERPINC1 mutations. In this study, we generated a human induced pluripotent stem cell (iPSC) line ZZUNEUi014-A from peripheral blood mononuclear cells of a female AT deficiency patient with the p. W27X (c. Read More

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December 2021

Prognostic value of the ADAMTS13-vWF axis in disseminated intravascular coagulation: Platelet count/vWF:Ag ratio as a strong prognostic marker.

Int J Lab Hematol 2021 Dec 22. Epub 2021 Dec 22.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.

Introduction: ADAMTS13 deficiency increases the circulating level of von Willebrand factor (vWF). Low ADAMTS13 and high vWF can provide a milieu for microthrombosis, including disseminated intravascular coagulation (DIC). This study investigated the prognostic values of ADAMTS13-vWF axis markers and their correlation with DIC severity. Read More

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December 2021

Coexistence of antithrombin deficiency and suspected inferior vena cava atresia in an adolescent and his mother - case report and clinical implications.

Thromb J 2021 Dec 22;19(1):105. Epub 2021 Dec 22.

Department of Pediatrics, Interdisciplinary Pediatric Intensive Care Medicine, University Medical Center Rostock, Rostock, Germany.

Background: Antithrombin deficiency (ATD) is an autosomal dominant thrombophilia presenting with varying phenotypes. In pediatric patients with ATD, thrombosis typically develops during the neonatal period or adolescence. However, to date there are no consistent recommendations on the therapeutic management of children with ATD. Read More

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December 2021

Hereditary Antithrombin Deficiency: A Balancing Act of Perioperative Hemostasis and Thromboprophylaxis-A Case Report.

A A Pract 2021 Dec 17;15(12):e01550. Epub 2021 Dec 17.

From the Departments of Anesthesiology.

Hereditary deficiency of antithrombin (AT) is associated with increased risk of venous thromboembolism (VTE), especially under the circumstances of stress, vascular injury, and immobilization associated with surgery. To date, there is no consensus on the use of perioperative anticoagulant bridging in the setting of hereditary thrombophilia. Balancing hemorrhagic and thrombotic risks associated with anticoagulant bridging and AT deficiency can be challenging to perioperative physicians. Read More

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December 2021

[Clinical and genetic analysis of pulmonary embolism induced by a novel gene mutation of the antithrombin Ⅲ gene].

Zhonghua Jie He He Hu Xi Za Zhi 2021 Dec;44(12):1085-1089

Department of Respiratory and Critical Care Medicine, the First Affiliated Hospital of Soochow University, Suzhou 215000, China.

To improve the clinical management of acute pulmonary embolism caused by antithrombin Ⅲ (AT Ⅲ) deficiency through gene sequence analysis of the gene. The diagnosis and treatment of a 33-year-old male patient with chest pain was reviewed. All exon sequences and flanking regions of 7 related genes of thrombophilia were subjected to detection by high-throughput next generation sequencing technology. Read More

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December 2021

[Phenotype and genetic mutation analysis of an inherited protein C deficiency pedigree].

Authors:
X Q Ma N Li R F Zhang

Zhonghua Jie He He Hu Xi Za Zhi 2021 Dec;44(12):1078-1084

Department of Respiratory and Critical Care Medicine, Zhongda Hospital Southeast University, Nanjing 210009, China.

A phenotypic and gene mutation study was carried out to investigate the molecular mechanism of inherited protein C deficiency in a family with the disorder. The proband was a 21-year-old male who was admitted to hospital due to swelling of the left lower limb for 3 months and hemoptysis with chest tightness for more than 1 week. The clinical diagnosis was pulmonary embolism and deep vein thrombosis of the left lower limb. Read More

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December 2021

Unusual pattern of thrombotic events in young adult non-critically ill patients with COVID-19 may result from an undiagnosed inherited and acquired form of thrombophilia.

Br J Haematol 2022 02 9;196(4):902-922. Epub 2021 Dec 9.

Department of Otolaryngology, Faculty of Medicine, Sohag University, Sohag, Egypt.

In 145 previously healthy non-critically ill young adults, coronavirus disease 2019 (COVID-19)-related symptoms, risk factors for thrombosis, coagulation and inflammatory parameters were compared, with 29 patients reporting unusual thrombotic events (UTEs) and 116 not having thrombotic events. The inflammatory indices, coagulation and prothrombotic platelet phenotype (PTPP) were significantly higher in patients with UTEs versus those without. Patients with UTEs were categorised according to detection of thrombophilic genes (TGs), coagulation and inflammatory markers to the non-TG and TG subcohort. Read More

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February 2022

Management of heparin resistance due to antithrombin deficiency in a Chinese pregnant woman: a case report.

J Int Med Res 2021 Nov;49(11):3000605211058355

Department of Obstetrics and Gynecology, School of Medicine, Renji Hospital, Shanghai JiaoTong University, Shanghai, China.

Untreated individuals with antithrombin (AT) deficiency are at higher risk of thrombosis and adverse pregnancy outcomes. The present recommendations are mostly empirical for treating patients with AT deficiency during pregnancy because of the absence of guidelines. We report a rare case of heparin resistance due to AT deficiency in a pregnant 32-year-old Chinese woman. Read More

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November 2021