The utility of thromboelastography and tranexamic acid in plasminogen activator inhibitor deficiency during pregnancy: a rare case report
Complete plasminogen activator inhibitor-1 (PAI-1) deficiency is a very rare genetic disorder that is associated with an increased risk of bleeding diathesis. Patients with PAI-1 deficiency are also known to be at increased risk for massive postpartum hemorrhage. We discuss one such rare case of PAI-1 deficiency in a young pregnant patient at 22 weeks of gestation with history of prolonged bleeding. Tranexamic acid was administered for menorrhagia and resumed later for labor and continued into the postpartum period since antifibrinolytics have been the mainstay in the management of PAI-1 deficiency. The patient delivered a...
Source: Blood Coagulation and Fibrinolysis - January 1, 2020 Category: Hematology Tags: CASE REPORTS Source Type: research
A novel mutation in the GP1BA gene in Bernard–Soulier syndrome
The Bernard–Soulier syndrome (BSS) is a rare disease with a prevalence of 1/1000 000; it is characterized by macrothrombocytopenia. BSS develops as a result of a defect in the glycoprotein GPIb-IX-V complex on the platelet surface. In this article, we present a pediatric patient with the novel mutation that has been identified for the first time in BSS. A 13-month-old male patient was admitted with severe thrombocytopenia unresponsive to intravenous immunoglobulin in the neonatal period and recurrent mucocutaneous bleeding which initiated at 5 months of age. glycoprotein (GP) IX (CD42a) expression was normal as per flo...
Source: Blood Coagulation and Fibrinolysis - January 1, 2020 Category: Hematology Tags: CASE REPORTS Source Type: research
An obscure case of using apixaban anti-Xa levels in a morbidly obese patient who was nil per os with enterocutaneous fistula
Apixaban anti-Xa levels have been introduced to monitor apixaban activity. Presented is a fundamental use of anti-Xa monitoring in questionable absorption in enterocutaneous fistula. A 57-year-old morbidly obese male (150 kg, BMI 42.5) presented to the emergency department with deep venous thromboses and pulmonary embolisms. He also had high-output enterocutaneous fistula managed with an abdominal collection device, total parental nutrition therapy, and nil per os status. He was able to take some oral (PO) medications; however, he reported finding whole capsules in his collection device. He refused enoxaparin injections ...
Source: Blood Coagulation and Fibrinolysis - January 1, 2020 Category: Hematology Tags: CASE REPORTS Source Type: research
von Willebrand factor alloantibodies in type 3 von Willebrand disease
We report the case of a 6-year-old girl with type 3 von Willebrand disease in whom inhibitors were sought due to ineffective haemostasis together with lower than expected von Willebrand factor (VWF) recoveries after a surgical procedure. Replacement therapy first with recombinant factor VIIa and then with high doses of recombinant factor VIII in continuous infusion successfully stopped the bleeding. A high level of anti-VWF antibodies was determined by the immunological method. A frameshift mutation associated with premature termination codon (c.2435delC, p.Pro812ArgfsTer31) was determined in our patient. Although the repo...
Source: Blood Coagulation and Fibrinolysis - January 1, 2020 Category: Hematology Tags: CASE REPORTS Source Type: research
A novel homozygous mutation (Gly1715Ser) causing hereditary factor V deficiency in a Chinese patient
To explore the phenotype and genotype of a Chinese family with hereditary factor V deficiency. Routine blood coagulation indexes were detected by one-stage clotting method, whereas factor V antigen was detected by ELISA. All exons and intron–exon boundaries of F5 gene were amplified by PCR and sequenced directly. The suspected mutation was confirmed by reverse sequencing. Bioinformatics softwares were used to analyze the possible impact of this mutation. Phenotypic analysis showed that the proband had significantly prolonged prothrombin time and activated partial thromboplastin time, and his factor V clotting activity wa...
Source: Blood Coagulation and Fibrinolysis - January 1, 2020 Category: Hematology Tags: MUTATION REPORTS Source Type: research
Congenital afibrinogenemia in a patient with vascular abnormalities and a novel variant: clinical-molecular description and literature review
The objective is to report a patient with congenital afibrinogenemia and vascular abnormalities and also review the clinical and molecular issues. The female proband, diagnosed with congenital afibrinogenemia, was admitted at a hospital due to a hemorrhagic shock. Angiotomography revealed ectasias from ascending branch to the abdominal aorta, with multiple calcifications and atheroma. Clinical exome identified a homozygous novel pathogenic variant in FGG gene. In our review the main symptom, at diagnosis, was umbilical cord bleeding and the degree of clinical involvement varied from asymptomatic to severe. The FGA gene was...
Source: Blood Coagulation and Fibrinolysis - January 1, 2020 Category: Hematology Tags: MUTATION REPORTS Source Type: research
Confounding effect of therapeutic protamine and heparin levels on routine and special coagulation testing
The management of a patient with hemophilia undergoing cardiovascular surgery relies on accurate coagulation test results. Both unfractionated heparin (UFH) and protamine sulfate used during cardiac surgery can interfere with factor and inhibitor assays. Here we describe the effects of UFH and protamine sulfate on routine coagulation, factor activity, and inhibitor assays. Pooled normal plasma (PNP) with UFH, PNP with protamine sulfate, PNP with both protamine sulfate and UFH were tested for the activated partial thromboplastin time (aPTT), prothrombin time (PT), thrombin time (TT), UFH anti-Xa, one-stage factor VIII (FVII...
Source: Blood Coagulation and Fibrinolysis - January 1, 2020 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
Pregnancy-related thrombosis risk in patients with protein C deficiency and comparison with pregnant women with heterozygous factor V Leiden mutation
The risk of pregnancy-related venous thromboembolism is high in patients with inherited thrombophilia. The aim of this study was to compare the risk of pregnancy related-venous thromboembolism of women with protein C (PC) deficiency to patients with heterozygous factor V Leiden mutation. 145 consecutive pregnant women with confirmed PC deficiency or heterozygous factor V Leiden mutation were prospectively enrolled in the study. Lyon venous thromboembolism-risk score was used to individually tailor antithrombotic prophylaxis. The use of a validated clinical score presents the advantage to have a homogenous management of the...
Source: Blood Coagulation and Fibrinolysis - January 1, 2020 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
Influence of hemolysis, icterus and lipemia on coagulation tests as performed on Cobas t511 new analyzer
In the coagulation laboratory, spurious hemolysis, icterus and lipemia (HIL) in test samples represent by far the leading diagnostic prenalytical challenges. The aim of this study was to assess the performance of the preanalytical module on the new hemostasis analyser Cobas Roche t511. We assessed the influence of HIL on prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen (Fib), antithrombin and D-dimer on plasma pools aliquots with different interference degrees. Moreover, we evaluated spontaneous hemolysis by comparing results on 50 paired samples (hemolysed versus nonhemolysed). Spurious hemo...
Source: Blood Coagulation and Fibrinolysis - January 1, 2020 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
Long-term outcomes in the treatment of acquired hemophilia A: a 16-year single institution prospective cohort experience
Acquired hemophilia A (AHA) is a rare bleeding disorder caused by autoantibodies against coagulation factor VIII. We conducted a single institution prospective cohort study to assess treatment strategies and long-term outcomes in AHA patients and provide further evidence for effective treatment and relapse timing. A total of 25 patients diagnosed with AHA between 2001 and 2017 at Penn State Hershey Medical Center were prospectively followed. Information was collected on factor VIII activity and inhibitor titer at diagnosis, treatment regimen(s), complete remission, and relapse time. For immunosuppressive therapy (IST), 19 ...
Source: Blood Coagulation and Fibrinolysis - January 1, 2020 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
Isolated tumour microparticles induce endothelial microparticle release in vitro
Cancer induces a hypercoagulable state, resulting in an increased risk of venous thromboembolism. One of the mechanisms driving this is tissue factor (TF) production by the tumour, released in small lipid bound microparticles. We have previously demonstrated that tumour cell line media-induced procoagulant changes in HUVEC. The aim of this study was to investigate the effect of tumour microparticles and recombinant human TF (rhTF) on the endothelium. Procoagulant microparticles from the PANC-1 cell line were harvested by ultrafiltration. HUVEC were then incubated with these procoagulant microparticles or rhTF. Flow cytomet...
Source: Blood Coagulation and Fibrinolysis - January 1, 2020 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
Clinico-hematological and thromboelastographic profiles in glanzmann's thrombasthenia
This study evaluates the clinical, laboratory and TEG profiles in patients with Glanzmann's thrombasthenia. Bleeding score by (International Society on Thrombosis and Haemostasis) ISTH-bleeding assessment tool (bleeding score), laboratory tests to diagnose Glanzmann's thrombasthenia, and TEG parameters were correlated in 11 Glanzmann's thrombasthenia patients. Seventeen participants with normal bleeding score were included as controls. Bleeding score was increased in all patients. The highest bleeding score was in an adult female (26), whereas the lowest score (4) was in two children of less than 1 year. Majority of TEG pa...
Source: Blood Coagulation and Fibrinolysis - January 1, 2020 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
Evaluation of biomarkers for monitoring thrombogenic potential of FXaI16L
The objective of this research was to evaluate candidate biomarkers for FXaI16L-induced thrombi/emboli formation to inform safety monitoring and dose-escalation decisions in FXaI16L clinical trials. Effects of intravenous FXaI16L administration on platelets, fibrinogen, activated partial thromboplastin time (aPTT), prothrombin time (PT), D-dimer, tissue factor pathway inhibitor, thrombin : antithrombin complex, antithrombin, and factor V, and protein C (PC) activities were evaluated in mice, rats, and monkeys. Mice had endogenous factor V activity 10× that of monkeys and were overly sensitive to FXaI16L-induced thromb...
Source: Blood Coagulation and Fibrinolysis - January 1, 2020 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
Investigating the influence of LCT rs3754689 polymorphism on inhibitor development in Iranian and Afghan patients with severe hemophilia A
Development of alloantibodies against factor VIII (FVIII) in patients with severe hemophilia A is the main complication of FVIII replacement therapy. There are many studies indicating several genetic factors associated with inhibitor development. A recent study showed that there is a correlation between the risk of inhibitor development and LCT rs3754689 polymorphism among Italian hemophilia A patients. The aim of this study was to speculate whether LCT rs3754689 polymorphism is correlated to inhibitor development in Afghan and Iranian patients. In addition, we assessed the association of F8 gene mutations and inhibitor de...
Source: Blood Coagulation and Fibrinolysis - January 1, 2020 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
Purification and characterization of a thrombin-like enzyme isolated from Vipera lebetina venom: its interaction with platelet receptor
This study reports the isolation and functional characterization of a new thrombin-like enzyme and its role in the modulation of platelet aggregation and coagulation. The molecule was purified by gel filtration, anion exchange chromatography and reverse-phase-HPLC on C8 column; its molecular weight was determined. Natural and synthetic substrates were used to evaluate its enzymatic activities. The fibrinogenolytic activity was tested electrophoretically and by reverse-phase-HPLC on C18 column. Otherwise, the effect on blood coagulation and deficient plasma factors were also evaluated. The mechanism by which a thrombin-like...
Source: Blood Coagulation and Fibrinolysis - January 1, 2020 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
