Acquired Bernard–Soulier syndrome and hypodysfibrinogenaemia because of multiple myeloma
We describe a case of a patient with multiple myeloma with initial presentation simulating a bleeding disorder. Detailed coagulation work-up showed hypodysfibrinogenaemia along with a platelet function defect consistent with acquired Bernard–Soulier syndrome (BSS). Multiple plasma exchanges led to significant improvement in his bleeding symptoms. To the best of our knowledge, this is the first described case of simultaneous presentation of hypodysfibrinogenaemia and BSS secondary to multiple myeloma. (Source: Blood Coagulation and Fibrinolysis)
Source: Blood Coagulation and Fibrinolysis - February 11, 2022 Category: Hematology Tags: CASE REPORTS Source Type: research
A founder effect in hemophilia A patients from Russian Ural region with a new p.(His634Arg) variant in F8 gene
Hemophilia A is a clotting disease caused by defects in the F8 gene. A lot of them are described and most are unique or have polyphyletic origin. We here study the origin of a pathogenic variant found in a few patients. We sequenced F8 gene for seven hemophilia A patients from the Ural region, Sverdlovskaya oblast, Russia. We constructed haplotypes for them and for 21 hemophilia A patients with other defects from the same area as a control group using four previously described X-chromosome loci associated with F8 gene. We identified a new missense variant p.(His634Arg) in seven apparently unrelated patients with mild hemop...
Source: Blood Coagulation and Fibrinolysis - February 11, 2022 Category: Hematology Tags: SHORT COMMUNICATION Source Type: research
Cost-effectiveness of thrombotic thrombocytopenic purpura diagnosis: a retrospective analysis in the University Hospital Center of Lyon (France)
The aim of the present study was to perform an economic evaluation of two alternative assays of ADAMTS13 activity (A Disintegrin And Metalloprotease with ThromboSpondin type 1 repeats, member 13) for diagnosing thrombotic thrombocytopenic purpura (TTP) in the Hospital of Lyon (France). The study approach was more economic than clinical. We retrospectively calculated the prescription costs of ADAMST13 activity from January to December 2019 for patients depending on the assay: manual ELISA (Technozym) or automated assay (AcuStar Werfen, Instrumentation Laboratory). Then, we compared the cost of therapeutic plasma exchange (T...
Source: Blood Coagulation and Fibrinolysis - February 11, 2022 Category: Hematology Tags: SHORT COMMUNICATION Source Type: research
Assessment of fibrinolytic markers in patients with deep vein thrombosis
The association of the fibrinolytic markers with deep vein thrombosis (DVT) is still a matter of debate. The present study aimed to investigate the association between fibrinolytic markers and DVT. This observational study recruited 52 adult cases with lower limb DVT and 52 healthy adult volunteers as controls. The quantitative determination of plasminogen activator inhibitor-1 (PAI-1), plasminogen, thrombin activable fibrinolysis inhibitor (TAFI), tissue plasminogen activator (tPA) and α2-antiplasmin (α2-AP) was performed by ELISA. TAFI, plasminogen and t-PA were significantly higher in cases than controls and PAI-1 was...
Source: Blood Coagulation and Fibrinolysis - February 11, 2022 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
Outcomes of patients with thromboembolic events following coronavirus disease 2019 AstraZeneca vaccination: a systematic review and meta-analysis
AstraZeneca coronavirus disease 2019 (COVID-19) vaccinations have recently been implicated in thromboembolism formations. Our aim was to investigate the outcomes of patients with thromboembolic events following the AstraZeneca vaccine (ChAdOx1 nCoV-19, AZD1222). A literature search was performed from December 2019 to September 2021. Eligible studies must report participants older than 18 years vaccinated with AstraZeneca and outcomes of thromboembolic events. Pooled mean or proportion were analyzed using a random-effects model. A total of 45 unique studies (number of patients = 144, 64.6% women, mean age 21–68 ye...
Source: Blood Coagulation and Fibrinolysis - February 11, 2022 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
Epidemiology, diagnosis and management of neonatal thrombosis: a single-center cohort study
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. The incidence of thrombosis was 25/1000 NICU admissions, with a preterm to term infant ratio of 1.5 : 1 and a slightly higher proportion of male sex (55.1%). The mean (range) gestational age and birth...
Source: Blood Coagulation and Fibrinolysis - February 11, 2022 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
Genotypes and phenotypes characterization of 17 Iranian patients with inherited factor X deficiency: identification of a novel mutation: Leu487Phe
Factor X deficiency is a rare bleeding disorder that affects almost 1 : 1000 000 people worldwide. It derives from multiple mutational changes in the factor X gene (F10). The main objective of the present study was to determine a consistent correlation between the clinical presentations and causative genotype. The phenotype and genotype of 17 Iranian patients with reduced factor X activity (FX:C) from 14 unrelated families were analyzed to screen factor X gene expression for any possible mutations and function alteration. Analysis of the sequencing results led to the identification of eight different mutations beside...
Source: Blood Coagulation and Fibrinolysis - February 11, 2022 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
First report of COVID-19 vaccine induced flare of compensated congenital thrombotic thrombocytopenic purpura
No abstract available (Source: Blood Coagulation and Fibrinolysis)
Source: Blood Coagulation and Fibrinolysis - January 1, 2022 Category: Hematology Tags: LETTER TO THE EDITOR Source Type: research
ChAdOx1 nCoV-19 vaccine-associated thrombocytopenia: three cases of immune thrombocytopenia after 107 720 doses of ChAdOx1 vaccination in Thailand
We reported three cases of immune thrombocytopenia (ITP) that developed within 6 weeks after ChAdOx1 nCoV-19 vaccination. Antiplatelet factor 4 antibodies were undetectable in all three cases. Therefore, vaccine-induced immune thrombotic thrombocytopenia was very unlikely. Other potential causes of thrombocytopenia were excluded. Their clinical presentations, severity of thrombocytopenia and outcomes were varied. Only one ITP case, an 80-year-old man, received ITP treatments and achieved complete response after 2 weeks of eltrombopag. An 84-year-old man had spontaneous complete remission, and a 55-year-old woman had partia...
Source: Blood Coagulation and Fibrinolysis - January 1, 2022 Category: Hematology Tags: CASE REPORT Source Type: research
Genetic analysis of compound heterozygous pathogenic variants of the F11 gene in two Chinese patients with hereditary factor XI deficiency
The aim of this study was to explore the molecular pathogenesis of two families with compound heterozygous hereditary factor XI deficiency. All the exons, flanking sequences, 5’ and 3’ untranslated regions of the F11 gene were analysed by direct DNA sequencing. The suspected variants were confirmed by reverse sequencing. Bioinformatics softwares were used to analysis the conservation and the possible impact of these pathogenic variants. Genetic analysis revealed c.689G > T and c.1556G > A variants of F11 gene in family A; c.1107C > A and c.1557G > C variants of F11 gene in family B. These variants sites...
Source: Blood Coagulation and Fibrinolysis - January 1, 2022 Category: Hematology Tags: MUTATION REPORT Source Type: research
Absence of exaggerated pharmacology by recombinant ADAMTS13 in the rat and monkey
Insufficiency of ADAMTS13 (a disintegrin and metalloprotease with thrombospondin motif repeats-13) is the cause of thrombotic thrombocytopenic purpura (TTP) and contributes in microangiopathy in sickle cell disease (SCD). Recombinant ADAMTS13 effectively cleaves prothrombotic ultra-large von Willebrand factor (VWF) multimers. It is being tested as replacement therapy for TTP, and at supra-physiologic concentrations, for moderating vaso-occlusive crisis in SCD. Deficiencies of VWF, or concomitant treatment with antithrombotic drugs, could pose risks for increased bleeds in these patient populations. The purpose of the exper...
Source: Blood Coagulation and Fibrinolysis - January 1, 2022 Category: Hematology Tags: SHORT COMMUNICATION Source Type: research
Coronavirus disease 2019 in patients with chronic immune thrombocytopenia on thrombopoietin receptor agonists: new perspectives and old challenges
There are limited data on the impact of severe acute respiratory syndrome corona virus 2 infection in patients previously diagnosed with primary immune thrombocytopenia (ITP) on thrombopoietin receptor agonist therapy (TPO-RA). Seven chronic ITP patients who had contracted COVID-19 and had been treated with TPO-RA are included in the study. Demographic, ITP treatment and comorbidities data were collected retrospectively from patients’ medical records. Data regarding clinical course of COVID-19 were collected prospectively. During the infection, all patients had platelet count higher than average, and platelet count peak ...
Source: Blood Coagulation and Fibrinolysis - January 1, 2022 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
Rotational thromboelastometry for diagnosis of fibrinolysis induced by urokinase in an in-vitro model
Fibrinolysis can be abnormally activated in several critical care settings but it's often misdiagnosed by standard laboratory tests. Although rotational thromboelastometry can assess the whole coagulative process, its ability to detect fibrinolysis has been questioned. Aim of this study was to investigate the ability of thromboelastometry in detecting induced fibrinolysis in an in-vitro model. Whole blood samples were taken from 18 healthy volunteers. Each sample was split and added with increasing urokinase concentrations till to reach 0, 50, 75 and 100 IU/ml. Thromboelastometry tests, extem and aptem, were performed on...
Source: Blood Coagulation and Fibrinolysis - January 1, 2022 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
Assessment of clinical characteristics and treatment outcomes of pediatric patients with intracardiac thrombosis: a single-center experience
The prevalence of intracardiac thrombus (ICT) is gradually increasing, though it is rare among children. Data related to the occurrence of ICT among children are limited, and treatment recommendations have been made utilizing adult guidelines. The primary objective of this study is to determine associated factors, management, and outcomes of intracardiac thrombosis in children. Between January 2013 and January 2020, patients diagnosed with ICT at the Pediatric Hematology-Oncology and Pediatric Cardiology departments in our hospital were included in the study. Demographic characteristics, clinical and laboratory findings, t...
Source: Blood Coagulation and Fibrinolysis - January 1, 2022 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
Effect of remote ischemic preconditioning on fibrin formation and metabolism in patients undergoing hip fracture surgery: a randomized clinical trial
This study investigated whether RIPC initiated antithrombotic mechanisms in patients undergoing hip fracture surgery. This trial was a predefined sub-study of a multicentre randomized clinical trial. Adult patients with cardiovascular risk factors undergoing hip fracture surgery between September 2015 and September 2017 were randomized 1 : 1 to RIPC or control. RIPC was initiated before surgery with a tourniquet applied to the upper arm and it consisted of four cycles of 5 min of forearm ischemia followed by five minutes of reperfusion. The outcomes such as surgery-induced changes in thrombin generation, fibrinogen/f...
Source: Blood Coagulation and Fibrinolysis - January 1, 2022 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
