A novel splicing mutation in F8 causes various aberrant transcripts in a hemophilia A patient and identifies a new transcript from healthy individuals
Hemophilia A is an X-linked hemorrhagic disorder caused by deficiency or dysfunction of the coagulation factor VIII (FVIII), and a great variety of mutations in the factor VIII gene (F8) are identified. We aimed to identify the genetic defects of the F8 gene in a Chinese patient with moderate hemophilia A. We have identified a novel intronic variant in the hemophilia A patient by DNA sequence analysis, cDNA sequencing, and TA clone sequencing. An intronic variant, c.5816-1G>A, was identified and the cDNA sequencing confirmed the pathogenicity of the transition. TA clone sequencing showed that the splicing mutation produced...
Source: Blood Coagulation and Fibrinolysis - November 17, 2020 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
Use of direct oral anticoagulants in cerebral venous thrombosis: a systematic review
We are here to review the efficacy and safety of direct oral anticoagulants (DOACs) in the treatment of Cerebral Venous Thrombosis (CVT). A search strategy was developed with a research librarian. All published articles including trials, studies, case series, and case reports were reviewed from NCBI/PubMed up to May 2019 by two independent reviewers. A total of 11 studies were identified, which included 70 patients with CVT on DOACs. After 6 months follow-up more than 86.7% of these patients had a good outcome on the Modified Rankin Scale (mRS) of 0--1 at 6 months and no recurrence of venous thromboembolic events (VTE) at ...
Source: Blood Coagulation and Fibrinolysis - November 17, 2020 Category: Hematology Tags: REVIEW ARTICLE Source Type: research
Acquired haemophilia A and late development of secondary autoimmune disorders, evidences from a single-centre observational study
No abstract available (Source: Blood Coagulation and Fibrinolysis)
Source: Blood Coagulation and Fibrinolysis - October 1, 2020 Category: Hematology Tags: LETTERS TO THE EDITOR Source Type: research
Estimation of uncertainty in measurement: interest of short-term Bayesian model as a complement to the conventional approach
No abstract available (Source: Blood Coagulation and Fibrinolysis)
Source: Blood Coagulation and Fibrinolysis - October 1, 2020 Category: Hematology Tags: LETTERS TO THE EDITOR Source Type: research
Outpatient central venous access device insertion in very young children with severe haemophilia
No abstract available (Source: Blood Coagulation and Fibrinolysis)
Source: Blood Coagulation and Fibrinolysis - October 1, 2020 Category: Hematology Tags: LETTERS TO THE EDITOR Source Type: research
Analysis of phenotype and genotype of a family with hereditary coagulation factor V deficiency caused by the compound heterozygous mutations
To analyze the causative gene and the molecular pathogenesis in a pedigree with compound hereditary coagulation factor V deficiency. Routine blood coagulation indexes and factor V antigen (FV:Ag) were detected by the one-stage clotting method and ELISA. Function of the mutant protein was evaluated by the method Calibrated Automated Thrombogram (CAT). The factor V gene was amplified by PCR with direct sequencing. The possible impact of the mutations were analyzed by bioinformatics tools. The proband's factor V activity and FV:Ag were reduced to 3 and 6%. Gene sequencing revealed compound heterozygous mutations c.911G>A (Gly...
Source: Blood Coagulation and Fibrinolysis - October 1, 2020 Category: Hematology Tags: MUTATION REPORT Source Type: research
A rare heterozygous variant in FGB (Fibrinogen Merivale) causing hypofibrinogenemia in a Swedish family
We describe a case of familial hypofibrinogenemia in a Swedish family. The proband is a 27-year-old woman, with a history of significant bleeding diathesis. She was diagnosed with moderate hypofibrinogenemia (0.8 g/l), and genetic screening identified a rare heterozygous missense variant in FGB (c.854G>A, p.Arg285His) (Fibrinogen Merivale) previously described in a New Zealand European family with symptomatic hypofibrinogenemia. The father, sister and brother of the proband also harbored the FGB variant, segregating with hypofibrinogenemia (0.9–1.2 g/l). The proband showed a more severe bleeding phenotype compared wi...
Source: Blood Coagulation and Fibrinolysis - October 1, 2020 Category: Hematology Tags: CASE REPORT Source Type: research
Deep intronic F8 c.5999-27A>G variant causes exon 19 skipping and leads to moderate hemophilia A
In conclusion, our study suggests that deep intronic F8 c.5999-27A>G variant may be responsible for F8 exon 19 skipping and lead to moderate hemophilia A. Systematic reanalysis of next-generation sequencing data could promote the diagnostic yields. (Source: Blood Coagulation and Fibrinolysis)
Source: Blood Coagulation and Fibrinolysis - October 1, 2020 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
‘Pulmonary thrombosis in situ’: risk factors, clinic characteristics and long-term evolution
The objective of the study is to assess risk factors, comorbidities, clinic characteristics and long-term evolution of patients with pulmonary embolism in the absence of an identified source. Retrospective study of 280 patients with pulmonary embolism, 190 pulmonary embolisms with DVT group and 90 (32%) pulmonary embolism without DVT (DNPE group), admitted to an Internal Medicine Department of a tertiary hospital from January 2012 to December 2015. In the DNPE group, segmental and subsegmental arteries were more frequently affected (P = 0.01). As compared with pulmonary embolisms with DVT group: older age, female sex, ...
Source: Blood Coagulation and Fibrinolysis - October 1, 2020 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
System performance evaluation of the cobas t 711 and cobas t 511 coagulation analyzers in routine laboratory settings
This study aimed to investigate the analytical performance, system functionality, practicability, consistency and throughput of two new automated coagulation analyzers in routine laboratory practice. Real-world settings were simulated in three major European hemostasis laboratories and multiple assays were performed in anonymized plasma samples in parallel with routine clinical practice on the cobas t 711 (high-throughput) and cobas t 511 (mid-throughput) analyzers using activated partial thromboplastin time (aPTT), aPTT Lupus, aPTT Screen, Antithrombin (AT), d-Dimer, Fibrinogen, Prothrombin Time (PT)-derived Fibrinogen, P...
Source: Blood Coagulation and Fibrinolysis - October 1, 2020 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
Postpartum bleeding in women with inherited bleeding disorders: a matched cohort study
Women with inherited bleeding disorders (IBDs) are reported to have higher rates of primary and secondary postpartum haemorrhage (PPH), even with optimal haemostatic management. We evaluated whether women with IBD have higher odds of PPH compared with those without, when controlled for mode of delivery with a control group of women without IBDs. The obstetric experiences and outcomes of all women with IBD delivering at a tertiary centre between 2008 and 2017, were compared with matched controls (1 : 1). Obstetric care was provided according to national guidelines to both women with IBD and controls. Primary PPH was def...
Source: Blood Coagulation and Fibrinolysis - October 1, 2020 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
The value of brain natriuretic peptide in the prosthetic valve thrombosis
We aimed to investigate how prosthetic valve thrombosis (PVT) affects brain natriuretic peptide (BNP) levels and how BNP changes following thrombolytic therapy. The study included 70 consecutive patients with left-sided mechanical PVT who received thrombolytic therapy. The patients were divided into two groups, namely obstructive thrombus (n = 42) and nonobstructive thrombus (NOT, n = 28). BNP levels of patients were assessed before and after thrombolytic therapy. BNP levels were higher in obstructive thrombus group than NOT group in whole study population, in patients with mitral PVT and in patients with aortic PV...
Source: Blood Coagulation and Fibrinolysis - October 1, 2020 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
Use of recombinant activated factor VII for uncontrolled bleeding in a haematology/oncology paediatric ICU cohort
Bleeding among critically ill paediatric haematology/oncology (CIPHO) patients leads to significant morbidity and mortality. Recombinant activated factor VII (rFVIIa) has shown some benefits in previous reported off-label use when conventional therapies have failed. However, data in CIPHO are lacking. We retrospectively studied (2006–2014) the efficacy and outcomes in CIPHO patients younger than 21 years who received at least one rFVIIa dose for bleeding in the ICU. Of 39 patients, the majority had leukaemia (59%), bone marrow transplantation (77%) and a life-threatening bleed (80%) with most common site being pulmonary ...
Source: Blood Coagulation and Fibrinolysis - October 1, 2020 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
Risk of recurrent venous thromboembolism related to prior risk situations: re-evaluation of a cohort study with a longer follow-up
We reported that patients without prior risk situation for VTE had an incidence rate ratio (IRR) three times higher when compared with those with this history. The aim of this study was to re-evaluate the cohort, with a longer follow-up and evaluated the association between the absence of a prior risk situation for VTE with an increased risk for recurrence. A total of 289 patients with a previous VTE were followed for 116 months. Patients were advised to attend the outpatients’ clinic in case of suspected VTE recurrence. Incidence rates of recurrent thrombotic events were calculated as the number of events over the accum...
Source: Blood Coagulation and Fibrinolysis - October 1, 2020 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
Current methods of measuring platelet activity: pros and cons
This article provides the reader with a rapid comparison of the different systems used to study platelets activities. (Source: Blood Coagulation and Fibrinolysis)
Source: Blood Coagulation and Fibrinolysis - October 1, 2020 Category: Hematology Tags: REVIEW ARTICLES Source Type: research
