2,711 results match your criteria Hemophilia Type A

Blood pressure in persons with haemophilia with a focus on haemophilia-specific risk factors.

Haemophilia 2022 Jun 29. Epub 2022 Jun 29.

Department of Medicine, Division of Hematology/Oncology, University of California San Diego, San Diego, California, USA.

Introduction: Persons with haemophilia (PWH) have a higher prevalence of hypertension compared to the general population, which cannot be explained entirely by the usual cardiovascular risk factors. Neutralizing antibodies (inhibitors) against clotting factors might have some relation to cardiovascular disease in PWH. However, whether inhibitors facilitate hypertension is unknown. Read More

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Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype.

Hemasphere 2022 Jun 11;6(6):e718. Epub 2022 May 11.

Department of Hematology, Erasmus MC, University Medical Center Rotterdam, The Netherlands.

Genotyping is not routinely performed at diagnosis of von Willebrand disease (VWD). Therefore, the association between genetic variants and pathogenic mechanism or the clinical and laboratory phenotype is unknown in most patients, especially in type 1 VWD. To investigate whether genotyping adds to a better understanding of the pathogenic mechanisms and variability in phenotype, we analyzed the gene in 390 well-defined VWD patients, included in the WiN study. Read More

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Applicability of the Thrombin Generation Test to Evaluate the Hemostatic Status of Hemophilia A Patients in Daily Clinical Practice.

J Clin Med 2022 Jun 10;11(12). Epub 2022 Jun 10.

Hemostasis, Thrombosis, Arteriosclerosis and Vascular Biology Research Group, Medical Research Institute Hospital La Fe (IIS La Fe), 46026 Valencia, Spain.

Hemophilia A (HA) is a rare bleeding disorder caused by factor VIII (FVIII) deficiency due to various genetic mutations in the gene. The disease severity inversely correlates with the plasma levels of functional FVIII. The treatment of HA patients is based on FVIII replacement therapy, either following a prophylactic or on-demand regime, depending on the severity of the disease at diagnosis and the patient's clinical manifestations. Read More

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Genetic Alterations, DNA Methylation, Alloantibodies and Phenotypic Heterogeneity in Type III von Willebrand Disease.

Genes (Basel) 2022 May 28;13(6). Epub 2022 May 28.

Department of Haematology, University of Health Sciences, Khayaban Jamia Punjab, Lahore 52600, Pakistan.

Type III von Willebrand disease is present in the Punjab province of Pakistan along with other inherited bleeding disorders like hemophilia. Cousin marriages are very common in Pakistan so genetic studies help to establish protocols for screening, especially at the antenatal level. Factors behind the phenotypic variation of the severity of bleeding in type III vWD are largely unknown. Read More

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Update on Guidelines for the Prevention of Cancer-Associated Thrombosis.

J Natl Compr Canc Netw 2022 Jun 21:1-8. Epub 2022 Jun 21.

6Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland.

Patients with cancer are at high risk of developing arterial and venous thromboembolism (VTE). They constitute 15% to 20% of the patients diagnosed with VTE. Depending on the type of tumor, cancer therapy, and presence of other risk factors, 1% to 25% of patients with cancer will develop thrombosis. Read More

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gene mutation spectrum in severe hemophilia A with inhibitors: A large cohort data analysis from a single center in China.

Res Pract Thromb Haemost 2022 May 8;6(4):e12723. Epub 2022 Jun 8.

Hemophilia Comprehensive Care Center Hematology Center Beijing Key Laboratory of Pediatric Hematology-Oncology National Key Discipline of Pediatrics (Capital Medical University) Key Laboratory of Major Diseases in Children Ministry of Education Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China.

Introduction: Type of  gene mutation is the most important risk factor for inhibitor development in people with severe hemophilia A. However, there are few large cohort studies on the  mutation spectrum of people with severe hemophilia A with inhibitors.

Objective: This was the first large cohort study in children with severe hemophilia A with inhibitors from China that aimed to analyze the association between variant types and inhibitor status. Read More

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Sarcopenia Is an Independent Risk Factor for Severe Diabetic Nephropathy in Type 2 Diabetes: A Long-Term Follow-Up Propensity Score-Matched Diabetes Cohort Study.

J Clin Med 2022 May 25;11(11). Epub 2022 May 25.

Graduate Institute of Business Administration, College of Management, Fu Jen Catholic University, Taipei 242, Taiwan.

Background: Diabetic nephropathy is a common cause of chronic kidney disease (CKD) and end-stage kidney disease (ESKD) worldwide and results in tremendous wastage of medical resources. Determining the indicators of diabetic nephropathy, such as sarcopenia, and implementing early interventions to prevent disease progression is crucial.

Purpose: The effect of sarcopenia on the risk of severe diabetic nephropathy in patients with type 2 diabetes (T2DM) remains unclear. Read More

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Seroprevalence to adeno-associated virus type 6 in people with hemophilia B from a UK adult cohort.

Res Pract Thromb Haemost 2022 May 3;6(4):e12705. Epub 2022 Jun 3.

University of Southampton Southampton UK.

Background: Gene therapy shows promise as a potential "cure" for hemophilia A and B. Adeno-associated virus (AAV) vectors are the leading platform to deliver modified genetic code of factor VIII or IX to the liver effecting endogenous production. Patient exposure to wild-type AAV leads to the formation of neutralizing factors, which can prevent successful transduction. Read More

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Plasma-derived FVIII/VWF complex shows higher protection against inhibitors than isolated FVIII after infusion in haemophilic patients: A translational study.

Haemophilia 2022 Jun 2. Epub 2022 Jun 2.

Thrombosis and Haemostasis Unit - IdiPAZ, University Hospital La Paz, Madrid, Spain.

Introduction: Presence of von Willebrand factor (VWF) in FVIII concentrates offers protection against neutralizing inhibitors in haemophilia A (HA). Whether this protection is more evident in plasma-derived (pd) FVIII/VWF or recombinant (r) FVIII concentrates remains controversial.

Aim: We investigated the protection exerted by VWF against FVIII inhibitors in an in vivo mouse model of HA exposed to pdFVIII/VWF or to various rFVIII concentrates. Read More

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Genetic Characterization of the Factor VIII Gene in a Cohort of Colombian Patients with Severe Hemophilia A with Inhibitors.

Hematol Rep 2022 May 4;14(2):149-154. Epub 2022 May 4.

Integral Solutions SD SAS, Integral Solutions Research, Bogota 110121, Colombia.

Hemophilia A is an X-linked bleeding disorder caused by mutations in the FVIII gene. Genetic factors have been shown to be a risk factor for the development of inhibitors. We aimed to identify the specific variations of the FVIII gene of patients with hemophilia A with inhibitors and their association with the inhibitor titer. Read More

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No Benefit to Platelet-rich Plasma Over Placebo Injections in Terms of Pain or Function in Patients with Hemophilic Knee Arthritis: A Randomized Trial.

Clin Orthop Relat Res 2022 May 31. Epub 2022 May 31.

Department of Orthopedics and Sports Medicine, The First Affiliated Hospital of Soochow University, Suzhou, People's Republic of China.

Background: Hemophilic knee arthritis is one of the most common presenting symptoms of hemophilia, and its management continues to be challenging to practitioners. Preliminary research has suggested that platelet-rich plasma (PRP) may have short-term efficacy in the treatment of hemophilic knee arthritis, but evidence for this treatment is limited.

Questions/purposes: What is the effectiveness of PRP compared with placebo in (1) reducing pain and improving knee joint function (as measured by WOMAC, VAS, and Hemophilia Joint Health Score [HJHS]) and (2) improving quality of life (as measured by SF-36 scores) in patients with hemophilic knee arthritis through 24 months of follow-up?

Methods: This was a prospective, parallel-group, double-blinded, single-center, placebo-controlled randomized clinical trial that included participants from a tertiary care center starting January 1, 2019, with follow-up completed on November 30, 2021. Read More

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Endothelial specific isoform of type XVIII collagen (COL-18N): A marker of vascular integrity in haemophilic arthropathy.

Haemophilia 2022 May 30. Epub 2022 May 30.

Pediatric Haematology/Oncology, Childrens Hospital, Ain Shams University, Cairo, Egypt.

Background: Haemophilic arthropathy (HA) is a major complication in haemophilia. Collagens IV, XV and XVIII are responsible for maintaining the integrity of the vessel wall in the joint. Following joint remodelling and damage, the short isoform of collagen type XVIII (COL-18N) is degraded, releasing measurable fragments. Read More

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Neutralizing Antibodies Against Factor VIII Can Occur Through a Non-Germinal Center Pathway.

Front Immunol 2022 11;13:880829. Epub 2022 May 11.

Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta/Emory University School of Medicine, Atlanta, GA, United States.

Humoral immunity to factor VIII (FVIII) represents a significant challenge for the treatment of patients with hemophilia A. Current paradigms indicate that neutralizing antibodies against FVIII (inhibitors) occur through a classical CD4 T cell, germinal center (GC) dependent process. However, clinical observations suggest that the nature of the immune response to FVIII may differ between patients. Read More

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Prolonged α-thrombin-related activation and delayed active protein C-associated degradation confer mild phenotype in a patient with severe hemophilia A with F8 p.H118R.

Int J Hematol 2022 May 19. Epub 2022 May 19.

Department of Laboratory Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo, 160-0023, Japan.

In hemophilia A, bleeding mostly correlates with factor VIII activity (FVIII:C), although some patients show discrepancy in bleeding severity and FVIII:C. We report a novel procoagulant mechanism associated with F8 p.H118R (c. Read More

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Naturally Occurring Anti-Idiotypic Antibodies Portray a Largely Private Repertoire in Immune-Mediated Thrombotic Thrombocytopenic Purpura.

J Immunol 2022 May 18. Epub 2022 May 18.

Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland; and Department for BioMedical Research, University of Bern, Bern, Switzerland

Rare immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a life-threatening disease resulting from a severe autoantibody-mediated ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type 1 motifs, member 13) deficiency. Acute iTTP episodes are medical emergencies, but when treated appropriately >95% of patients survive. However, at least half of survivors will eventually experience a relapse. Read More

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Efficacy and safety of von Willebrand factor concentrate almost devoid of factor VIII (Wilfactin) in paediatric patients under 6 years of age with severe von Willebrand disease.

Blood Transfus 2022 Apr 19. Epub 2022 Apr 19.

Department of Haemostasis and Transfusion, Lille University Hospital, Lille, France.

Background: Plasma-derived von Willebrand factor (VWF) (Wilfactin, LFB, France) was developed for prophylaxis and treatment of haemorrhages in both adults and adolescents with von Willebrand disease (VWD). Replacement therapy in paediatric patients is a key element of the clinical trial programme.

Material And Methods: Patients aged <6 years with severe VWD were enrolled in a multinational, open-label study to evaluate the in vivo recovery for Wilfactin, and its efficacy in preventing and treating bleeding episodes and during surgery. Read More

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Quantification of the relationship between desmopressin concentration and Von Willebrand factor in Von Willebrand disease type 1: A pharmacodynamic study.

Haemophilia 2022 May 8. Epub 2022 May 8.

Department of Paediatric Haematology, Erasmus MC Sophia Children's Hospital, University Medical Centre Rotterdam, The Netherlands.

Introduction: Desmopressin can be used to prevent bleeding in von Willebrand disease (VWD), but the relationship between desmopressin and von Willebrand factor activity (VWF:Act) has yet to be quantified.

Aim: To quantify the relationship between desmopressin dose, its plasma concentration and the VWF:Act response in type 1 VWD patients.

Methods: Forty-seven VWD patients (median age 25 years, IQR: 19-37; median body weight 71 kg, IQR: 59-86) received an IV desmopressin dose of . Read More

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Anti-TFPI for hemostasis induction in patients with rare bleeding disorders, an ex vivo thrombin generation (TG) guided pilot study.

Blood Cells Mol Dis 2022 Jul 12;95:102663. Epub 2022 Apr 12.

National Hemophilia Center, Sheba Medical Center, Tel Hashomer, Israel; Amalia Biron Research Institute of Thrombosis and Hemostasis, Sackler School of Medicine, Tel Aviv University, Israel. Electronic address:

Background: Rare bleeding disorders (RBD) are inherited coagulopathies, whose hemostatic control is based upon replacement therapy. Marstacimab (PF-06741086) is a human monoclonal IgG that targets the Kunitz2 domain of tissue factor pathway inhibitor [TFPI]. Marstacimab is currently in development for bleeding prophylaxis in patients with hemophilia. Read More

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Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease.

Croat Med J 2022 Apr;63(2):166-175

Ivana Lapić, Department of Laboratory Diagnostics, University Hospital Center Zagreb, Kišpatićeva 12, 10000 Zagreb, Croatia,

Aim: To identify the von Willebrand factor (VWF) gene variant status in Croatian adult patients diagnosed with von Willebrand disease (VWD), provide differential diagnosis of VWD subtypes, and identify patients with mild hemophilia A (HA) who were earlier misdiagnosed as VWD.

Methods: Coagulation testing included determination of VWF gain-of-function mutant glycoprotein Ib binding activity (VWF:GPIbM), VWF antigen, VWF collagen-binding activity, and multimeric analysis. Genetic analysis of VWF and FVIII genes was performed with next-generation sequencing (NGS). Read More

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Assessment of Oral Health and Healthy Habits in Adult Patients with Congenital Hemophilia.

Eur J Dent 2022 May 2. Epub 2022 May 2.

Department of Conservative Dentistry and Endodontics, Poznan University of Medical Sciences, Poznan, Poland.

Objectives:  The objective of our study was to assess the current knowledge, the oral health status, and the pro-health needs of patients with hemophilia.

Materials And Methods:  The study included 77 patients with known hemophilia. The study included the assessment of dental indicators related to caries incidence (decayed, missing, and filled teeth [DMFT] and decayed, missing, and filled permanent teeth or surfaces [DMFS]), caries treatment (treatment index), oral hygiene status (Approximal Plaque Index [API] and simplified oral hygiene index [OHI-S]), and periodontal status (bleeding on probing [BoP]). Read More

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The international WAO/EAACI guideline for the management of hereditary angioedema - The 2021 revision and update.

World Allergy Organ J 2022 Mar 7;15(3):100627. Epub 2022 Apr 7.

Department of Immunology, Barts Health NHS Trust, London, United Kingdom.

Hereditary Angioedema (HAE) is a rare and disabling disease for which early diagnosis and effective therapy are critical. This revision and update of the global WAO/EAACI guideline on the diagnosis and management of HAE provides up-to-date guidance for the management of HAE. For this update and revision of the guideline, an international panel of experts reviewed the existing evidence, developed 28 recommendations, and established consensus by an online DELPHI process. Read More

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Case Report: Acquired Haemophilia A Following mRNA-1273 Booster Vaccination Against SARS-CoV-2 With Concurrent Diagnosis of Pleomorphic Dermal Sarcoma.

Front Immunol 2022 11;13:868133. Epub 2022 Apr 11.

Department of Nephrology and Rheumatology, University Medical Center Göttingen, Göttingen, Germany.

While the global pandemic caused by severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2) is still ongoing and new virus variants are emerging, there is a universal need for vaccines to protect individuals from severe complications and ideally control the pandemic by enabling herd immunity. Several vaccines against SARS-CoV-2 have been approved and are widely used to stem the recurring waves of coronavirus disease 2019 (COVID-19). Post-marketing surveillance is essential to record even rare safety issues related to these new vaccines. Read More

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Emicizumab enhances thrombus formation in vitro under high shear flow conditions in whole blood from patients with type 1 and type 3 von Willebrand disease.

Haemophilia 2022 Apr 27. Epub 2022 Apr 27.

Department of Pediatrics, Nara Medical University, Kashihara, Nara, Japan.

Introduction: Type 1 and type 3 von Willebrand disease (VWD) are caused by partial and complete, quantitative deficiency of von Willebrand factor (VWF), respectively, and factor (F)VIII/VWF complex concentrates are used for haemostatic treatment. Emicizumab, mimics activated FVIII, reduces bleeding in haemophilia A patients. The effects of emicizumab on haemostasis in both types of VWD remain to be fully established, however. Read More

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Directed evolution of adeno-associated virus 5 capsid enables specific liver tropism.

Mol Ther Nucleic Acids 2022 Jun 21;28:293-306. Epub 2022 Mar 21.

School of Bioengineering, East China University of Science and Technology, Shanghai 200237, China.

Impressive achievements in clinical trials to treat hemophilia establish a milestone in the development of gene therapy. It highlights the significance of AAV-mediated gene delivery to liver. AAV5 is a unique serotype featured by low neutralizing antibody prevalence. Read More

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Health care utilization and expenditures of parents of children with and without hemophilia A.

J Manag Care Spec Pharm 2022 May;28(5):529-537

CHOICE Institute, Department of Pharmacy, University of Washington, Seattle, Washington.

Caring for children with hemophilia A (HA) impacts many aspects of parents' lives. How this translates to caregivers' utilization of health services is unknown, and its elicitation can inform future evaluations of interventions that address caregiver burden for HA. To understand the impact of caring for children with HA on parents' utilization of nonmental and mental health services by comparing 1-year costs and number of claims with parents of children without HA. Read More

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von Willebrand factor propeptide variants lead to impaired storage and ER retention in patient-derived endothelial colony-forming cells.

J Thromb Haemost 2022 Jul 3;20(7):1599-1609. Epub 2022 May 3.

Department of Medicine, Queen's University, Kingston, Ontario, Canada.

Background: von Willebrand factor (VWF) is synthesized by vascular endothelial cells and megakaryocytes. The VWF propeptide is critical for multimerization and acts as an intra-molecular chaperone for mature VWF in sorting to its storage organelles, Weibel-Palade bodies (WPBs). In the Canadian Type 3 VWD study, almost half of the identified variants were in the VWF propeptide and these were associated with an increased bleeding phenotype. Read More

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Phenotypic and genetic characterization of the Milan cohort of von Willebrand disease type 2.

Blood Adv 2022 04 22. Epub 2022 Apr 22.

Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi, Hemophilia and Thrombosis, Milan, Italy

von Willebrand disease (VWD) type 2 is caused by qualitative abnormalities of von Willebrand factor (VWF). This study aimed to determine the genotype and phenotype characterization of a large VWD type 2 cohort from Milan. We included 321 patients (54% females) within 148 unrelated families from 1995-2021. Read More

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Effectiveness of long-term prophylaxis using pdFVIII/VWF concentrate in patients with inherited von Willebrand disease.

Eur J Haematol 2022 Jul 29;109(1):109-117. Epub 2022 Apr 29.

CRTH, AP-HP- Hôpital de Bicêtre, Le Kremlin-Bicêtre, France.

Background: Patients with symptomatic von Willebrand disease (VWD) should be offered long-term prophylaxis (LTP) to prevent recurrent bleedings. Our objective was to evaluate the effectiveness and safety of Voncento®, a plasma-derived FVIII/VWF concentrate (ratio 1:2.4), administrated in LTP. Read More

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Advantages of external quality assessment-EQA programs.

Haemophilia 2022 Apr 12. Epub 2022 Apr 12.

UK NEQAS Blood Coagulation, Sheffield, UK.

Introduction: The first external quality assessment (EQA) in Thrombosis and Haemostasis was elaborated over 20 years ago, and since then, several national and international EQA institutions have been established.

Aim: Display the benefits of EQA programs.

Methods: The spectrum of EQA action was evaluated ranges from improving the performance of the local laboratory to highlighting inadequate diagnostic tests that need to be replaced by new technologies. Read More

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Management and outcomes of mild hemophiliacs and hemophilia carriers during pregnancy and peripartum period: a hemophilia treatment center experience in the United States.

J Matern Fetal Neonatal Med 2022 Apr 12:1-6. Epub 2022 Apr 12.

Division of Hematology and Oncology, Department of Medicine, Weill Cornell Medicine/New York Presbyterian Hospital, New York, NY, USA.

Background: Pregnancy, peripartum management, and outcomes of mild hemophiliacs and hemophilia carriers in the United States are not well established.

Aim: To describe the management and outcomes of mild hemophiliacs and hemophilia carriers during assisted conception, pregnancy, peripartum and post-partum period at our hemophilia treatment center (HTC).

Methods: Retrospective review of electronic medical records of pregnant women with mild hemophilia A or B (Factor VIII [FVIII] or Factor IX [FIX] level <0. Read More

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