The study of transcriptome sequencing in childhood immune thrombocytopenia
No abstract available (Source: Blood Coagulation and Fibrinolysis)
Source: Blood Coagulation and Fibrinolysis - November 18, 2019 Category: Hematology Tags: LETTER TO THE EDITOR Source Type: research

Argatroban to achieve therapeutic anticoagulation in two patients with acute thrombosis and heparin resistance
We present two cases where argatroban was successfully used in patients with acute thrombosis requiring anticoagulant treatment where heparin resistance with unfractionated heparin had been encountered. The first case was a woman with abdominal arterial thrombosis, of unknown cause, treated with therapeutic low molecular weight heparin that developed pulmonary embolism despite therapeutic anticoagulation (and had evidence of heparin resistance on anti-Xa monitoring). The second patient had provoked abdominal arterial thrombosis from sepsis and could not attain therapeutic anticoagulation with intravenous unfractionated hep...
Source: Blood Coagulation and Fibrinolysis - November 18, 2019 Category: Hematology Tags: CASE REPORTS Source Type: research

Bernard–Soulier syndrome associated with 22q11.2 deletion and clinical features of DiGeorge/velocardiofacial syndrome
We report a case of a girl with BSS associated with clinical features of 22q11.2 deletion syndrome (22q11.2DS) with phenotypic spectrum of DiGeorge syndrome/velocardiofacial syndrome. She has a history of life-long bleeding tendency, tetralogy of Fallot, hypothyroidism, mild facial dysmorphic signs and macrothrombocytopenia. The BBS and 22q11.2DS association could be explained by the fact that the constitutional hemizygosity of 22q11.2 may unmask an autosomal recessive disorder caused by alterations of the nondeleted GPIbβ allele. We suggest that all patients with 22q11.2DS and bleeding manifestations should be always...
Source: Blood Coagulation and Fibrinolysis - November 18, 2019 Category: Hematology Tags: CASE REPORTS Source Type: research

Severe acquired platelet dysfunction because of primary myelofibrosis with full functional and morphological recovery after allogeneic hematopoietic cell transplantation
In this report, we document restoration of megakaryocyte and platelet structure and function in PMF after allogeneic hematopoietic cell transplantation (HCT). A 59-year-old man presented with recurrent episodes of postoperative bleeding preceding a diagnosis of primary myelofibrosis (PMF). Platelet aggregation and secretion studies showed abnormal responses to all agonists tested (epinephrine, ADP, arachidonic acid, U46619, collagen, ristocetin) despite the presence of thrombocytosis. After an allogeneic HCT, platelet morphology and function studies were all normal. The pathophysiology of platelet dysfunction in myeloid ne...
Source: Blood Coagulation and Fibrinolysis - November 18, 2019 Category: Hematology Tags: CASE REPORTS Source Type: research

Genetic analysis of a pedigree with hereditary coagulation factor XI deficiency
To identify potential mutations of F11 gene in a family with hereditary coagulation factor XI (FXI) deficiency and explore the molecular pathogenesis. The FXI activity and FXI antigen were tested with clotting assay and ELISA, respectively. The FXI gene was amplified by PCR with direct sequencing. Three bioinformatics softwares were used to study the conservatism and harm of the mutation. The proband had a prolonged activated partial thromboplastin time (84.2 s), whose FXI activity and FXI antigen were 3.0 and 8.6%. Gene sequencing revealed that the propositus carried a heterozygous nonsense mutation c.738G>A in exon ...
Source: Blood Coagulation and Fibrinolysis - November 18, 2019 Category: Hematology Tags: MUTATION REPORT Source Type: research

Congenital factor XI deficiency, complete genotype and phenotype of two Iranian families
Congenital factor XI (FXI) deficiency is a mild trauma-related bleeding disorder with estimated worldwide prevalence of one per 1 million. The disorder is less frequent in Iran and a few studies have been performed on Iranian patients. In the current study, we assessed molecular, laboratory and clinical features of two Iranian patients with congenital FXI deficiency and their families. Clinical features and demographic data of the patients were assessed by the physician and a staff member trained specifically to deal with patients with bleeding disorders. FXI activity and antigen assays were performed for seven members of ...
Source: Blood Coagulation and Fibrinolysis - November 18, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

Mixing-based inhibitor screening in haemophilia A: challenges in interpretation
Inhibitor development in haemophilia A patients is a dreaded complication of factor VIII (FVIII) replacement therapy. With increasing use of FVIII replacement therapy, there is an imperative need for cost-effective and standardized screening. To evaluate the efficacy of mixing-based inhibitor screening (MBIS) in the detection of FVIII inhibitors and to assess the best cut-off values for MBIS. Forty inhibitor positive and 40 inhibitor negative haemophilia A patients, diagnosed by standard criteria, with detailed clinical, haematological and on-demand treatment records were included. MBIS was evaluated in all 80 cases and a ...
Source: Blood Coagulation and Fibrinolysis - November 18, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

Plasma phenotypes of protein S Lys196Glu and protein C Lys193del variants prevalent among young Japanese women
Protein S Tokushima (p.Lys196Glu) and two protein C gene variants (p.Arg189Trp, p.Lys193del) are hereditary thrombophilia in Japanese and Chinese populations, respectively; however, their diagnosis by plasma analyses is difficult because of the type II deficiency phenotype. Three gene variant genotypes were examined in young Japanese women (n = 231). Plasma total protein S activity and total protein S antigen levels were measured using a total protein S assay system, protein C and protein S activities by clot-based methods, and protein C and free protein S antigen levels by latex agglutination methods. protein S Tokush...
Source: Blood Coagulation and Fibrinolysis - November 18, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

Perioperative safety and haematostatic efficacy of a new bypassing agent pd-FVIIa/FX (Byclot) in haemophilia patients with high-responding type inhibitors
This study's results suggest that both combination and sequential therapy of pd-FVIIa/FX and other bypassing agents are well tolerated and effective for the control of perioperative bleeding in haemophilia patients with high-responding inhibitors. (Source: Blood Coagulation and Fibrinolysis)
Source: Blood Coagulation and Fibrinolysis - November 18, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

Anticoagulant activity of krait, coral snake, and cobra neurotoxic venoms with diverse proteomes are inhibited by carbon monoxide
Conclusion Given that individual neurotoxin activity often depends on intact activity that includes anticoagulant action, it may be possible that carbon monoxide inhibits neurotoxicity. Future investigation is justified to assess such carbon monoxide mediated inhibition with purified neurotoxins in vitro and in vivo. (Source: Blood Coagulation and Fibrinolysis)
Source: Blood Coagulation and Fibrinolysis - November 18, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

Rare bleeding disorders and advances in gene therapy
Rare bleeding disorders usually begin in childhood and manifest as varying degrees of bleeding, which can be life-threatening in severe cases. With the development of gene editing technology, it is expected that hereditary coagulation factor disorders will someday be fundamentally cured by gene therapy. On account of their rarity, comprehension of these diseases is essential for the application of new treatment strategies. We have compiled the features of some newly discovered mutations of prothrombin, factor VII, and factor X in recent years. In addition, this review introduces the advances and obstacles in gene therapy. ...
Source: Blood Coagulation and Fibrinolysis - November 18, 2019 Category: Hematology Tags: REVIEW ARTICLE Source Type: research

Thromboelastography testing in mice following blood collection from facial vein and cardiac puncture
In this study, we aimed to investigate the feasibility of facial vein sampling for TEG analysis as an alternative to cardiac puncture and examined the impact on coagulation results. Blood samples were obtained from a total of 10 C57BL/6 and CD-1 mice via cardiac puncture and a total of another eight mice of similar strains via facial vein sampling. We compared TEG parameters in both methods using descriptive statistics and the Student t test. Results show no significant difference in any of the TEG parameters between cardiac and facial vein blood indicating the two methods are comparable. Facial vein sampling provides a le...
Source: Blood Coagulation and Fibrinolysis - October 1, 2019 Category: Hematology Tags: SHORT COMMUNICATION Source Type: research

Dabigatran for catastrophic antiphospholipid syndrome
In conclusion, this case report provides anecdotic evidence that dabigatran may be of use in patients with high-risk APS in whom VKA are not an option. (Source: Blood Coagulation and Fibrinolysis)
Source: Blood Coagulation and Fibrinolysis - October 1, 2019 Category: Hematology Tags: CASE REPORTS Source Type: research

When age is truly only a number: late diagnosis of von Willebrand disease type 2B in a 61-year-old woman
We present the case of a 61-year-old woman who was misdiagnosed as immune thrombocytopenic purpura during her three pregnancies resulting in a delayed diagnosis of VWD type 2B. This genetically confirmed diagnosis resulted in testing and the establishment of the diagnosis in her otherwise asymptomatic adult son as well. VWD may not be diagnosed till beyond mid adulthood in women with thrombocytopenia previously attributed to pregnancy and should be considered as a differential in female patients developing thrombocytopenia less than 100 × 103/μl with an increased bleeding assessment tool score. (Source: Blood ...
Source: Blood Coagulation and Fibrinolysis - October 1, 2019 Category: Hematology Tags: CASE REPORTS Source Type: research

Hemophilia A in Afghanistan, the first report
This study aimed to evaluate different aspects of hemophilia A in Afghanistan for the first time. This study was conducted on 167 patients with hemophilia A who were referred to hemophilia center of Kabul city. The diagnosis of the disease was performed based on standard questionnaire, evaluation of clinical manifestations and family history as well as laboratory assays. Diagnose of hemophilia A was confirmed by coagulation factor VIII (C: FVIII) assay. The mean age and mean age at diagnosis were 13.7 ± 2.4 and 1.4 ± 0.7 years, respectively. The mean FVIII level was 0.7 IU/dl. The most common clinic...
Source: Blood Coagulation and Fibrinolysis - October 1, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

Patient characteristics when starting treatment and patterns of treatment in adults with chronic immune thrombocytopenia
Asymptomatic patients with primary chronic immune thrombocytopenia (ITP) are not recommended treatment if their platelet counts are above 30 × 109/l. Factors such as age and comorbidities may influence clinical manifestations and should be considered for treatment decisions. The aim of this study was to determine the impact of clinical characteristics for initiation of ITP treatment, and the patterns of ITP treatment given. We performed an observational cohort study in Sweden with information from medical records and National Health Registers. Adults diagnosed with incident primary ITP between years 2009 and 2016...
Source: Blood Coagulation and Fibrinolysis - October 1, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

No hyperfibrinolysis following subarachnoid or intracerebral haemorrhage: a prospective cohort study
Changes in fibrinolysis following subarachnoid haemorrhage (SAH) and intracerebral haemorrhage (ICH) are sparsely investigated. To investigate fibrinolysis in the acute phase in SAH and ICH patients compared with healthy individuals, fibrinolysis after 24 h in ICH patients and the in-vivo effect of tranexamic acid (TXA) on fibrinolysis in SAH patients. Further, ex-vivo studies were performed by addition of several haemostatic agents to blood samples obtained at admission. Blood was sampled from 46 SAH and 41 ICH patients upon admission. In ICH patients, a second blood sample was obtained 24 h after symptom onset, and i...
Source: Blood Coagulation and Fibrinolysis - October 1, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

Evaluation of nonneutralizing antibodies against factor VIII in severe haemophilia A patients from India
Haemophilia A is treated by replacement therapy with factor VIII (FVIII) concentrate. This strategy of treatment is ineffective in some patients due to the development of neutralizing antibodies (NNAs) against FVIII. The inhibitors have been identified to act against the functional domains of FVIII. The presence of NNAs against FVIII has also been identified. There is limited data on the prevalence and significance of NNA in haemophilia. To identify the presence of NNA in severe haemophilia A in our population, patients who were recruited from community-based camps were evaluated for FVIII activity. The patient's samples w...
Source: Blood Coagulation and Fibrinolysis - October 1, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

The effect of vitamin D levels on gastrointestinal bleeding in patients with warfarin therapy
Upper tract gastrointestinal system (GIS) bleeding is considered as an important cause of morbidity and mortality despite modern and advanced endoscopic interventions. In patients with thrombotic state and vitamin D deficiency, vitamin D analogs and vitamin D receptor activators have been determined as adjunctive anticoagulant treatment in previous studies. However, these studies did not evaluate or reveal the possible bleeding diathesis. In this article, we evaluated the vitamin D status in patients with warfarin treatment and upper tract GIS bleeding. A total of 75 patients with a definite diagnosis of upper tract GIS bl...
Source: Blood Coagulation and Fibrinolysis - October 1, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

A bacterial metabolite, trimethylamine N-oxide, disrupts the hemostasis balance in human primary endothelial cells but no coagulopathy in mice
The gut microbial metabolite, trimethylamine N-oxide (TMAO), was previously reported to induce platelet hypersensitivity, which leads to thrombotic risk. However, the molecular mechanism underlying the effects of TMAO on endothelial cells (EC), which is the primary vessel wall contact with the lumen, remains unclear. Here, we investigated the impact of TMAO on procoagulant activity (PCA) in EC and mice, for a possible link between microbiota and coagulation. To test the PCA of TMAO in EC, we performed one-stage clotting assays and converted into PCA. Antitissue factor (TF) antibody was used to test the TF role in PCA. Quan...
Source: Blood Coagulation and Fibrinolysis - October 1, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

Perioperative laboratory monitoring in congenital haemophilia patients with inhibitors: a systematic literature review
In conclusion, many methods of perioperative monitoring of haemophilia patients with inhibitors have been identified in this review, yet there is a lack of reporting in larger scale cohort studies. More detailed reporting on the impact of monitoring outcomes on treatment decisions is also needed to share best practice, particularly as new therapeutic agents emerge. (Source: Blood Coagulation and Fibrinolysis)
Source: Blood Coagulation and Fibrinolysis - October 1, 2019 Category: Hematology Tags: REVIEW ARTICLE Source Type: research

Antithrombin concentrate during pregnancy in congenital antithrombin deficiency: a single-center experience
We report our experience of seven pregnancies occurred in five women: two, with a personal and familiar history negative for venous thromboembolism, were treated with LMWH during pregnancy and antithrombin concentrate immediately before and after the delivery. The other three women had a personal and familiar history positive for venous thromboembolism and were treated with LMWH and antithrombin concentrate during all the pregnancy and the postpartum period. No thromboembolic or hemorrhagic complications were observed in both groups, demonstrating that our strategy could be safe and effective. (Source: Blood Coagulation and Fibrinolysis)
Source: Blood Coagulation and Fibrinolysis - August 20, 2019 Category: Hematology Tags: SHORT COMMUNICATION Source Type: research

Prolonged activated partial thromboplastin time due to plasma prekallikrein deficiency: a case study and literature review on its clinical significance
We presented an asymptomatic case with isolated activated partial thromboplastin time prolongation. After excluding coagulation factor deficiency and lupus anticoagulant, the patient was diagnosed with plasma prekallikrein (PPK) deficiency. We reviewed the literature regarding effects of PPK deficiency which could have both antithrombotic and prothrombotic effects. At the moment, research supports that PPK deficiency in healthy adults rarely causes bleeding as it is not a major contributor of hemastasis; whereas in adults with multiple comorbidities or with predominant systemic inflammation, effects of PPK deficiency remai...
Source: Blood Coagulation and Fibrinolysis - August 20, 2019 Category: Hematology Tags: CASE REPORTS Source Type: research

Thrombopoietin receptor agonists as second-line therapy in splenectomy-eligible persistent immune thrombocytopenia: a case series
We present six patients with primary ITP resistant to corticosteroids and intravenous immunoglobulins, who received TPO-RA in the persistent phase and then underwent splenectomy in the chronic phase. Eltrombopag was administered as a second-line therapy in four patients, whereas two patients received romiplostim. Five out of six patients rapidly reached response or complete response (four and one, respectively) and steroid suspension. In one case, remission was obtained with steroid and TPO-RA. No significant side effects were reported. After splenectomy, complete response and response was reached in four and two patients,...
Source: Blood Coagulation and Fibrinolysis - August 20, 2019 Category: Hematology Tags: CASE REPORTS Source Type: research

Development of an inhibitor in a child with severe hemophilia B: treatment with immunosuppression and an extended desensitization protocol
We report development of an inhibitor in a child with severe hemophilia B, and subsequent immune tolerance induction using an extended desensitization protocol with the addition of immunosuppression. This case highlights successful management of a rare complication in a rare bleeding disorder and the need for additional investigation into this infrequent and clinically challenging occurrence. (Source: Blood Coagulation and Fibrinolysis)
Source: Blood Coagulation and Fibrinolysis - August 20, 2019 Category: Hematology Tags: CASE REPORTS Source Type: research

Application of thrombelastography in primary total knee and total hip replacement: a prospective 87 patients study
Thrombelastography (TEG) parameters and prothrombin time (PT), activated partial thromboplastin time (APTT) are compared and analysed. According to change of TEG parameters and assessment of haemostatic state of each patient, we try to explore the feasibility of individualized anticoagulant therapies. 87 people with hip or knee diseases awaiting arthroplasty were recruited. Haemoglobin levels and TEG parameters including R, K, α-angle, maximum amplitude, coagulation index were assessed in perioperative period. PT and APTT were assessed preoperatively. For 65 patients with normal TEG parameters, PT and APTT, we use tr...
Source: Blood Coagulation and Fibrinolysis - August 20, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

Rare clotting factor deficiency among Sudanese children
Rare clotting factor (F) deficiency is a deficiency of one or more of coagulation factors other than FVIII, FIX and vonWillebrand (FI, FII, FV, FV + FVIII, FVII, FIX, FX, FXI and FXIII) that cause bleeding disorders and are inherited as autosomal recessive. Descriptive study was conducted in Hemophilia Centre, Khartoum, Sudan. The medical files of pediatric patients presented to the center were reviewed retrospectively. Forty-seven patients (male : female ratio = 1.2 : 1) were included. The majority (93.6%) have parental history of consanguinity and around one third (31.9%) have family history of bleeding d...
Source: Blood Coagulation and Fibrinolysis - August 20, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

The predictive value of stress hyperglycemia on thrombus burden in nondiabetic patients with ST-segment elevation myocardial infarction
In this study, we aimed to investigate the predictive value of hyperglycemia on thrombus burden in nondiabetic patients with ST-segment elevation myocardial infarction (STEMI) who underwent to primer percutaneous coronary intervention (PPCI). We enrolled 619 nondiabetic patients with STEMI who received PPCI. Patients were divided two groups according to thrombus burden. Stress hyperglycemia was determined as blood glucose concentration more than 180 mg/dl and angiographic coronary thrombus burden was scored based on thrombolysis in myocardial infarction thrombus grades. Patients with thrombus grades 4 were defined as lar...
Source: Blood Coagulation and Fibrinolysis - August 20, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

Measuring high on-treatment platelet reactivity in clinical practice; should we use a panel of platelet function tests?
High on-treatment platelet reactivity (HPR) on P2Y12-inhibitors in patients treated with dual antiplatelet therapy is strongly associated with adverse ischaemic events. Studies have shown conflicting results with regard to the correlation and agreement between the different tests. Several assays are available to establish HPR. A composite advice based on more than one test might be a better way to identify HPR patients. To compare HPR rates and agreement between individual platelet function tests and a panel of three tests In our large percutaneous coronary intervention centre, all patients who suffered a stent thrombosis ...
Source: Blood Coagulation and Fibrinolysis - August 20, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

Hemostasis-related gene polymorphisms and their epistatic relationship in women with idiopathic infertility
A numerous factor can cause infertility, but around one of four reproductive failure cases remain unexplained and diagnosed as idiopathic infertility. In the past few decades, analysis of gene polymorphisms takes a significant place in pathogenesis of infertility. The aim of this study was to evaluate the possible role of hemostasis-related gene polymorphisms in unexplained infertility. The study includes 117 female patients with idiopathic infertility and 130 fertile women with at least one born child. Eight polymorphisms important for hemostasis (ITGB3 1565T>C, FV 1691G>A, FII 20210G>A, MTHFR 677C>T and 1298A...
Source: Blood Coagulation and Fibrinolysis - August 20, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

Evolving paradigm in thrombophilia screening
The role of genetic thrombophilia screening for identifying a hypercoagulable state in the management of venous thromboembolism. We searched MEDLINE and EMBASE from 1995 to 2017, the websites of the professional bodies including American Society of Hematology, British Society of Hematology, International Society of Thrombosis and Hemostasis, College of American Pathologists, American College of Medical Genetics, and American Society of obstetrics and gynecology for their clinical practice guidelines. We used search strategy terms – venous thromboembolism, inherited, thrombophilia, and hypercoagulable state. Thromboph...
Source: Blood Coagulation and Fibrinolysis - July 1, 2019 Category: Hematology Tags: SHORT COMMUNICATION Source Type: research

Imatinib-induced platelet dysfunction and hypofibrinogenemia in chronic myeloid leukemia
We aim to present a case of chronic myeloid leukemia (CML) in chronic phase, in major molecular response for 5 years of treatment with imatinib 400 mg OD. He presented with recurrent melena for one and a half years, requiring 11 U of packed red cell transfusion since then. Various causes of bleeding in CML, such as thrombocytopenia, disease progression related to accelerated phase/blast crisis or imatinib-induced cytopenia were ruled out. His investigations revealed reduced plasma fibrinogen (150 mg/ml; range 200–450 mg/ml). The platelet count, prothrombin time, activated partial thromboplastin time and throm...
Source: Blood Coagulation and Fibrinolysis - July 1, 2019 Category: Hematology Tags: CASE REPORTS Source Type: research

Gastrointestinal angiodysplasia in two patients with type 3 von Willebrand disease
We present two patients of type 3 VWD associated with AD and severe GI bleeding, which were successfully treated by endoscopic coagulation and prophylactic therapy with different regimens of plasma-derived VWF/factor VIII (pdVWF/FVIII) concentrate to maintain a trough level in the patient unresponsive to standard treatment. (Source: Blood Coagulation and Fibrinolysis)
Source: Blood Coagulation and Fibrinolysis - July 1, 2019 Category: Hematology Tags: CASE REPORTS Source Type: research

Acquired von Willebrand syndrome in a patient with small lymphocytic lymphoma and Sjögren's syndrome: which associated condition should be prioritized?
Acquired von Willebrand syndrome (AVWS) is a rare hemorrhagic condition that poses both a diagnostic and a therapeutic challenge. Here we report a singular case of AVWS with two associated conditions, small lymphocytic lymphoma (SLL) and Sjögren's syndrome. The patient presented with recurrent and severe digestive bleeding that forced us to raise a curative attempt of AVWS. A first immunosuppressive therapy with immunoglobulins was unsuccessful and it was later decided to treat lymphoproliferative entity with bendamustine and rituximab effectively achieving SLL and AVWS remission. On the basis of our case and through ...
Source: Blood Coagulation and Fibrinolysis - July 1, 2019 Category: Hematology Tags: CASE REPORTS Source Type: research

Phenotypic and genetic analysis of hypofibrinogenemia because of a novel missense mutation in the FGB: Leu121Arg
In this study, we found a novel missense gene mutation of fibrinogen (FIB) and it will help us to understand the pathogenesis of this type of disease. The FIB activity (FIB:C) and FIB antigen (FIB:Ag) were detected using matched commercially available kits. To identify the novel missense mutation, the fibrinogen gene sequencing was carried out. Bioinformatics and model analysis were used to study the harm of the mutation. The FIB:C and FIB:Ag of the proband were 0.82 and 1.19 g/l, respectively. Sequencing analysis detected a heterozygous c.425T>G in exon three of FGB gene resulting in p.Leu121Arg. The Leu121Arg mutati...
Source: Blood Coagulation and Fibrinolysis - July 1, 2019 Category: Hematology Tags: MUTATION REPORT Source Type: research

First description of the molecular and clinical characterization of hereditary factor V deficiency in Saudi Arabia: report of four novel mutations
Coagulation factor V plays a significant role in the blood coagulation cascade as part of the prothrombinase complex. Factor V deficiency (FVD) is a rare autosomal recessive bleeding disorder with a variable phenotypic expression which varies from being asymptomatic-to-severe bleeding episodes. The aim of this study was to perform molecular and clinical characterization of FVD in patients originating from Saudi Arabia. Eleven patients (two males and nine females) with confirmed FVD were recruited in the study with ages ranging between 5 and 53 years. A next-generation sequencing-based hematology panel encompassing 393 know...
Source: Blood Coagulation and Fibrinolysis - July 1, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

The platelet surface glycosylation caused by glycosidase has a strong impact on platelet function
In this study, we further investigated whether altered glycosylation affects platelet function. Platelets were obtained from ten healthy volunteers. The platelet surface terminal sialic acid was removed by neuraminidase A, and N-linked oligosaccharides was removed by PNGase F. The function of the enzyme-treated platelet was measured. The activation and platelet adhesion to von Willebrand factor (vWF) was measured by flow cytometry. Platelet aggregation induced by ADP, arachidonic acid and collagen was detected through light transmission aggregometry, and platelet-leukocyte aggregates (PLAs) was detected by flow cytometry. ...
Source: Blood Coagulation and Fibrinolysis - July 1, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

Serum metabolomics reveals the progression of coronary artery stenosis in patients with hypercholesterolemia: a pilot study
The current study explores potential characteristic metabolic signatures associated with the high cholesterol (CHO), and the progression of coronary artery stenosis (CAS) in high-CHO patients. A metabolomics strategy based on ultra high-performance liquid chromatography/MS-MS and multivariate statistics has been implemented to identify potential biomarkers in high-CHO patients with different levels of CAS. The current study included 57 individuals, comprising 17 healthy paticipants, and 40 high-CHO patients. The high CHO patients were subgrouped based on the computed tomography angiography results, that is, CHO+ no ART (n...
Source: Blood Coagulation and Fibrinolysis - July 1, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

Point-of-care hemostasis in children with congenital heart disease, the POCHEMO study: baseline reference values of thromboelastometry and impedance aggregometry
Viscoelastic tests and impedance aggregometry allow coagulation evaluation at the bedside, but reference values are scarce in pediatrics. The aim of this study was to establish reference values of thromboelastometry and impedance aggregometry for this population and compare it between age groups. This prospective, single-center, observational study evaluates viscoelastic tests and impedance aggregometry in children with congenital heart disease. A total of 204 children were included with a median age of 3.6 years old. We provide references values for this population with median, percentile 2.5 and percentile 97.5. Infants ...
Source: Blood Coagulation and Fibrinolysis - July 1, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

A series of 10 Polish patients with thromboembolic events and antithrombin deficiency: two new c.1154-1 G>C and c.1219-534 A>G: SERPINC1: gene splicing mutations
In conclusion, we show the molecular base of AT deficiency in 10 new Polish patients, including two novel SERPINC1 gene mutations potentially affecting splicing. (Source: Blood Coagulation and Fibrinolysis)
Source: Blood Coagulation and Fibrinolysis - July 1, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

Pulmonary embolism location is associated with the co-existence of the deep venous thrombosis
Multiple studies have shown that in approximately half of individuals with pulmonary embolism (PE), the deep venous thrombosis (DVT) is not evident at the moment of PE diagnosis. The underlying factors and the origin of PE in these patients are not completely understood: missed DVT, embolization of DVT in its entirety, or de-novo PE being possible explanations. The aim of this study was to evaluate the differences in PE patient with or without co-existing DVT. Sixty-three consecutive PE patients were included. Whole leg bilateral Doppler compression ultrasound was performed to all patients. The PE location and extension, C...
Source: Blood Coagulation and Fibrinolysis - July 1, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

Thromboelastometry in critically ill patients with disseminated intravascular coagulation
Coagulopathy has a high incidence in critically ill patients and is often caused by disseminated intravascular coagulation (DIC). Although the clinical picture of DIC ranges from a prothrombotic state to severe consumption coagulopathy with an increased bleeding tendency, there are no clinical tests that reflect of in-vivo hemostatic profile. Rotational thromboelastometry (ROTEM) may be able to indicate whether a patient has a hypocoagulable or hypercoagulable profile and possibly be able to discriminate patients with and without DIC. The aim of this article was to study the diagnostic ability of thromboelastometry to dete...
Source: Blood Coagulation and Fibrinolysis - July 1, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

Coagulation factor XIII-A and activated FXIII-A decrease in some deep vein thrombosis patients following catheter-directed thrombolysis
The objective of the study was to assess the effect of tissue plasminogen activator administered during catheter-directed thrombolysis (CDT) on coagulation factor XIII (FXIII). Thrombolytic therapy carries significant risks, such as life-threatening bleeds. The mechanisms responsible for major bleeds and intracerebral hemorrhages during thrombolysis are not fully understood. Activated FXIII (FXIII-A*) lies at the intersection of coagulation and fibrinolysis. Using purified proteins and blood collected from nine deep vein thrombosis patients undergoing CDT, the stability of FXIII-A* and FXIII were measured immediately befor...
Source: Blood Coagulation and Fibrinolysis - May 15, 2019 Category: Hematology Tags: SHORT COMMUNICATION Source Type: research

A case-report of successful use of thromboelastography to manage anticoagulation therapy in a patient with concomitant catastrophic antiphospholipid syndrome and heparin-induced thrombocytopenia
Catastrophic antiphospholipid syndrome (CAPS) is a severe but rare form of antiphospholipid syndrome (APS) that results in multiple thrombosis of multiple organs within a week [1]. Similarly, heparin-induced thrombocytopenia (HIT) has been associated with severe and life-threatening thrombosis, both conditions mediated by an autoimmune disorder resulting in a highly thrombotic state [2,3]. Both conditions requiring aggressive therapeutic anticoagulation when coinciding CAPS complicated by HIT presents a therapeutic challenge. Current recommendations advocate for the use of anti-Xa activity monitoring in the setting of APS ...
Source: Blood Coagulation and Fibrinolysis - May 15, 2019 Category: Hematology Tags: CASE REPORTS Source Type: research

Recombinant Von Willebrand factor concentrate in 2A Von Willebrand disease: comparison to plasma-derived Von Willebrand factor concentrate therapy
We describe a patient with Type 2A VWD who had persistent refractory epistaxis despite treatment with PD-VWFC. We describe differences in VWF multimeric composition and Factor VIII (FVIII) levels after plasma-derived and rVWF concentrates. Despite similar VWF levels, VWF multimeric composition after PD-VWFC remained abnormal while it corrected with rVWFC. Post-PD-VWFC, high levels of FVIII were seen, which were not observed after rVWFC. Recombinant VWFC may offer some advantages over PD-VWFC. This finding needs to be confirmed in larger studies. (Source: Blood Coagulation and Fibrinolysis)
Source: Blood Coagulation and Fibrinolysis - May 15, 2019 Category: Hematology Tags: CASE REPORTS Source Type: research

Case report of two siblings with type 2A von Willebrand disease involving a novel mutation within the calcium-binding site of the A2 domain of von Willebrand factor
We report a novel VWF variant, a heterozygous single nucleotide change, c.4493A>G, occurring at the p.Asp1498 residue of the calcium-binding site of the A2 domain in two sisters with type 2A von Willebrand disease. Modest increase in the VWF propeptide/VWF:Ag ratio (2.4 and 2.7) supports increased clearance of VWF. A literature review provided insight into the integral role of p.Asp1498 residue in calcium-binding and its role in the stabilization of other residues including p.Arg1597 and p.Asn1602. Studies done by other groups on engineered mutations involving p.Asp1498 reported increased susceptibility to ADAMTS13 prot...
Source: Blood Coagulation and Fibrinolysis - May 15, 2019 Category: Hematology Tags: CASE REPORTS Source Type: research

Comparison of clot-based and chromogenic assay for the determination of protein c activity
In conclusion, we recommend the chromogenic method as the assay of choice, which is also recommended by the College of American Pathologist Consensus Study over activated partial thromboplastin time-based assay. We have shown here that despite a good correlation between the two techniques, there is a difference as highlighted by the difference plots. (Source: Blood Coagulation and Fibrinolysis)
Source: Blood Coagulation and Fibrinolysis - May 15, 2019 Category: Hematology Tags: TECHNICAL REPORT Source Type: research

Analysis of apoptotic, platelet-derived, endothelial-derived, and tissue factor-positive microparticles of children with acute lymphoblastic leukemia during induction therapy
Conclusion Our study demonstrated that children with ALL have increased levels of apoptotic, platelet-derived, endothelial-derived, and tissue factor-positive microprticles during induction therapy. Further studies are needed in larger groups of patients in order to evaluate the risk of elevated microprticles for development of thromboembolism during induction therapy period in children with ALL. (Source: Blood Coagulation and Fibrinolysis)
Source: Blood Coagulation and Fibrinolysis - May 15, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

Recombinant human prothrombin (MEDI8111) combined with fibrinogen dose-dependently improved survival time and reduced blood loss in a porcine model of dilutional coagulopathy with uncontrolled bleeding
Uncontrolled bleeding due to trauma and coagulopathy is an area with high unmet medical need and high mortality rate. Treatment recommendations focus on transfusion of blood components while optimal therapy to improve coagulation remains to be established. The haemostatic effect of 2, 4 and 8 mg/kg recombinant prothrombin (MEDI8111) co-administered with 100 mg/kg fibrinogen (n = 7–8) was investigated in a porcine model of dilutional coagulopathy with uncontrolled bleeding. Vehicle (n = 11), fibrinogen alone (100  mg/kg , n = 15) were included as controls. Dilutional coagulopathy was induced by rep...
Source: Blood Coagulation and Fibrinolysis - May 15, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research

Blockade of T-cell immunoglobulin and mucin domain-containing molecule 3 aggravates T-helper cell 1 polarization in immune thrombocytopenia
An increased T-helper cell (Th) 1/Th2 ratio in the peripheral blood has been proposed to correlate with the disease activity of immune thrombocytopenia (ITP). T-cell immunoglobulin and mucin domain-containing molecule 3 (TIM-3) is a Th1-associated cell surface molecule that regulates Th1 responses and promotes tolerance. Consequently, we aimed to determine whether the regulation of TIM-3 expression is likely to be a promising therapeutic approach for ITP. In the present study, we investigated the immunomodulatory activities of TIM-3 in human peripheral blood mononuclear cell (PBMC) cultures. Levels of interferon-gamma (IFN...
Source: Blood Coagulation and Fibrinolysis - May 15, 2019 Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research