Pseudotumor of hemophilia of the thumb.
Authors: Khubrani AM, Alshomer FM, Alassiri AH, AlMeshal O Abstract [No Abstract Available]. PMID: 32601647 [PubMed - in process] (Source: Saudi Medical Journal)
Source: Saudi Medical Journal - July 2, 2020 Category: Middle East Health Tags: Saudi Med J Source Type: research

Cost of patients with hemophilia A treated with standard half-life or extended half-life FVIII in Spain.
CONCLUSIONS: According to this model, use of SHL rFVIII versus EHL rFVIII products could lead to savings for the Spanish National Health System. PMID: 32597317 [PubMed - as supplied by publisher] (Source: Expert Review of Pharmacoeconomics and Outcomes Research)
Source: Expert Review of Pharmacoeconomics and Outcomes Research - July 1, 2020 Category: Health Management Tags: Expert Rev Pharmacoecon Outcomes Res Source Type: research

In Fetal Therapy, an Obligation to Temper Excitement With Caution
Innovations in diagnostic techniques, genomic analysis, stem cell treatments, and gene therapies have the potential to revolutionize our approach to many birth defects and genetic diseases that we are presently able to manage only after birth. In their review of gene and stem cell therapies for fetal care in this issue of JAMA Pediatrics, O ’Connell et al provide a comprehensive perspective on current practice and the probable future for affected pregnancies. Many of the treatments described are presently at the experimental stage. In the theoretical case study of corrected hemophilia before birth, the authors descri...
Source: JAMA Pediatrics - June 29, 2020 Category: Pediatrics Source Type: research

Correction to: Cardiac surgery in patients with Hemophilia:is it safe?
An amendment to this paper has been published and can be accessed via the original article. (Source: Journal of Cardiothoracic Surgery)
Source: Journal of Cardiothoracic Surgery - June 29, 2020 Category: Cardiovascular & Thoracic Surgery Authors: Amjad Shalabi, Erez Kachel, Alexander Kogan, Leonid Sternik, Liza Grosman-Rimon, Ronny Ben-Avi, Diab Ghanem, Eilon Ram, Ehud Raanani and Mudi Misgav Tags: Correction Source Type: research

Acquired haemophilia a: an intriguing disease
Acquired Haemophilia A is a rare acquired bleeding disorder caused by autoantibodies directed against Factor VIII, which neutralize FVIII activity. These inhibitors differ from alloantibodies against FVIII which can occur in congenital Haemophilia A after repeated exposures to plasma-derived or recombinant FVIII products. In most cases the disease occurs suddenly in subjects without personal or familiar history of bleedings, with symptoms that may be mild, moderate or severe. However, only laboratory alterations are present in   ̴ 30% of patients. The incidence varies from 1 to 4 cases per million/year; more tha...
Source: Mediterranean Journal of Hematology and Infectious Diseases - June 28, 2020 Category: Hematology Authors: Maria Gabriella Mazzucconi, Erminia Baldacci, Antonietta Ferretti, Cristina Santoro Source Type: research

Acquired haemophilia as a paraneoplastic manifestation of pancreatic cancer.
Authors: Arain A, Muhsen IN, Abdelrahim M Abstract Acquired haemophilia is a severe haematological disorder characterised by the presence of anti-factor VIII antibodies. Although rare, it can lead to serious bleeding complications. Acquired haemophilia can be seen in patients with malignancies as a paraneoplastic phenomenon. This is a case of a 52-year-old patient who presented with haematuria and retroperitoneal bleeding soon after being diagnosed with pancreatic adenocarcinoma and subsequently was found to have acquired haemophilia. The treatment of underlying malignancy with chemotherapy may accelerate the eradi...
Source: Ecancermedicalscience - June 27, 2020 Category: Cancer & Oncology Tags: Ecancermedicalscience Source Type: research

Spontaneous subepithelial hemorrhage of renal pelvis and ureter (Antopol-Goldman lesion) in hemophilia A patient with inhibitor: Case report and review of the literature
Conclusion: Although very rare, AGL should be kept in mind in the differential diagnosis of renal pelvic hemorrhage. In the patient who has an underlying history of coagulopathy nephrectomy can be avoided when there is awareness of AGL. (Source: Medicine)
Source: Medicine - June 26, 2020 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Iliopsoas hematomas in people with hemophilia: diagnosis and treatment.
Authors: Rodriguez-Merchan EC, De la Corte-Rodriguez H Abstract INTRODUCTION: Iliopsoas muscle hemorrhage in patients with hemophilia is a serious complication with relevant related morbidity. AREAS COVERED: A Cochrane Library and PubMed (MEDLINE) search of studies related to iliopsoas hematomas in hemophilia was analyzed. Pain in the hip joint area and femoral nerve involvement in people with hemophilia should alert physicians to the likelihood of a hemorrhage of the iliopsoas muscle. Clinically, reduced hip range of motion and deficient motor and sensory function of the femoral nerve can be found. Imaging stu...
Source: Expert Review of Hematology - June 25, 2020 Category: Hematology Tags: Expert Rev Hematol Source Type: research

Prophylaxis for hemophilia A without inhibitors: treatment options and considerations.
Authors: Valentino LA, Khair K Abstract INTRODUCTION: Hemophilia A is a bleeding disorder traditionally managed with standard half-life (SHL) factor (F) VIII concentrates. Extended half-life (EHL) FVIII products and emicizumab-kywh, a nonfactor therapy, are newer treatment options. Additional nonfactor agents and gene therapy are expected to reach the market in the near future. AREAS COVERED: A PubMed (MEDLINE) search from 1962 to April 2020 related to hemophilia A, its management, and the products currently available for prophylaxis was performed to comprehensively review these topics and analyze the benefits ...
Source: Expert Review of Hematology - June 25, 2020 Category: Hematology Tags: Expert Rev Hematol Source Type: research

Practical Guidance of the GTH Haemophilia Board on the Use of Emicizumab in Patients with Haemophilia A.
In conclusion, this study is designed to support haemophilia physicians using Emicizumab in physicians treating hemophilia and using (PWHAs). With further post-marketing experience and trials, regular updates are necessary. PMID: 32588417 [PubMed - as supplied by publisher] (Source: Hamostaseologie)
Source: Hamostaseologie - June 25, 2020 Category: Hematology Authors: Holstein K, Albisetti M, Bidlingmaier C, Halimeh S, Heine S, Klamroth R, Königs C, Kurnik K, Male C, Oldenburg J, Streif W, Wermes C, Escuriola-Ettingshausen C, ‘Ständige Kommission Hämophilie’ (Haemophilia board) of the German, Swiss Austrian Soci Tags: Hamostaseologie Source Type: research

The Greek hero Achilles and his mysterious death: transdisciplinary analysis of the gouty hypothesis.
Authors: Armocida E, Galassi FM, Melintenda S, Martini M Abstract Achilles is a character of Greek mythology whose deeds are mainly told in the Iliad by Homer. Achilles distinguishes himself on the battlefield of Troy with his dexterity and strength, appearing invincible, yet he dies wounded by an arrow in his heel. How could an arrow shot to the heel kill anybody, no matter whether vulnerable or invulnerable? Many researchers have tried to give a medical explanation to this mythological conundrum starting from a literary interpretation of the Homeric text: poisoning, infection, allergy, haemophilia or thyroid stor...
Source: Clinical and Experimental Rheumatology - June 24, 2020 Category: Rheumatology Tags: Clin Exp Rheumatol Source Type: research

B Cell Depletion Eliminates FVIII Memory B Cells and Enhances AAV8-coF8 Immune Tolerance Induction When Combined With Rapamycin
Hemophilia A is an inherited coagulation disorder resulting in the loss of functional clotting factor VIII (FVIII). Presently, the most effective treatment is prophylactic protein replacement therapy. However, this requires frequent life-long intravenous infusions of plasma derived or recombinant clotting factors and is not a cure. A major complication is the development of inhibitory antibodies that nullify the replacement factor. Immune tolerance induction (ITI) therapy to reverse inhibitors can last from months to years, requires daily or every other day infusions of supraphysiological levels of FVIII and is effective i...
Source: Frontiers in Immunology - June 24, 2020 Category: Allergy & Immunology Source Type: research

Different Clinical Phenotypes Caused by Three F8 Missense Mutations in Three Chinese Families with Moderate Hemophilia A
DNA and Cell Biology, Ahead of Print. (Source: DNA and Cell Biology)
Source: DNA and Cell Biology - June 24, 2020 Category: Cytology Authors: Limin Huang Liyan Li Qiang Li Juanjuan Chen Sheng Lin Kun Li Dongmei Fan Wangjie Jin Yihong Li Xu Yang Yufeng Xiong Ming Li Xuexi Yang Source Type: research

ITI Treatment is not First-Choice Treatment in Children with Hemophilia A and Low-Responding Inhibitors: Evidence from a PedNet Study.
et) Abstract INTRODUCTION:  Limited data exist on the clinical impact of low-responding inhibitors and the requirement for immune tolerance induction (ITI) treatment to establish tolerance, reduce bleeding, and improve outcome. The aim of this article is to describe the therapeutic management of children with severe hemophilia A and low-responding inhibitors and its effect on bleeding phenotype. METHODS:  The REMAIN (Real-life Management of Inhibitors) study is a satellite study of the PedNet registry. It included unselected children with severe hemophilia A (factor VIII [FVIII] 
Source: Thrombosis and Haemostasis - June 22, 2020 Category: Hematology Authors: van den Berg HM, Mancuso ME, Königs C, D'Oiron R, Platokouki H, Mikkelsen TS, Motwani J, Nolan B, Santagostino E, European Pediatric Network for Haemophilia Management (PedNet) Tags: Thromb Haemost Source Type: research

Total Ankle Replacement in Hemophilia
(Source: Cardiovascular and Haematological Disorders - Drug Targets)
Source: Cardiovascular and Haematological Disorders - Drug Targets - June 20, 2020 Category: Cardiology Authors: Rodriguez-Merchan, Emerito C. Tags: Review article Source Type: research

Multislice spiral computed tomography imaging in evaluating hemophilic arthropathy.
Abstract BACKGROUND: Certain hemophilia patients are unable to cooperate with or afford magnetic resonance imaging (MRI) examinations. The purpose of our study was to explore the value of multislice spiral computed tomography (MSCT) in evaluating hemophilic arthropathy (HA). METHODS: Thirty-eight patients with 73 joints of HA were consecutively selected from January 2016 to May 2018 for this prospective study. All 73 joints were examined by X-ray, CT, and MRI within 2 days. The MRI scores of the joints were determined by the International Prophylaxis Study Group (IPSG) standard. The CT findings were quantifie...
Source: Chinese Medical Journal - June 19, 2020 Category: General Medicine Authors: Zhang YX, Li MX, Wei SF, Zhang L, Cheng TM, Ge YH Tags: Chin Med J (Engl) Source Type: research

Safety of relaxing coagulation control by anti-TFPI in hemophilia patients: impact of tissue distribution of tissue factor.
Abstract Prophylactic treatment by substitution of the missing coagulation factors has been the cornerstone of hemophilia treatment for the last 50 years. However, prophylactic treatment can be burdensome and sometimes inefficient, particularly in patients with inhibitors. Novel approaches in management of hemophilia are focused on products that would ease the prophylactic treatment, i.e. have a long half-life and subcutaneous applicability, and efficacy irrespective of the presence of inhibitors. Novel non-replacement therapies target different points in the coagulation cascade with the aim to enhance thrombin ge...
Source: Thrombosis and Haemostasis - June 18, 2020 Category: Hematology Authors: Boban A, Hermans C Tags: J Thromb Haemost Source Type: research

An overview of the pathfinder clinical trials program: Long-term efficacy and safety of N8-GP in patients with hemophilia A.
Abstract N8-GP (turoctocog alfa pegol, Esperoct® ; Novo Nordisk A/S, Bagsvaerd, Denmark) is a state-of-the-art, extended half-life factor VIII (FVIII) molecule used for prophylactic and on-demand treatment of patients with hemophilia A. The pathfinder clinical trial program, which began with the pathfinder1 trial in 2010, was developed to assess the long-term efficacy and safety of N8-GP in children, adolescents and adults. The pivotal pathfinder2 (adolescents and adults) and pathfinder5 (children) trials were completed in late 2018, and comprehensive analyses of the end-of-trial results are published together...
Source: Thrombosis and Haemostasis - June 17, 2020 Category: Hematology Authors: Matsushita T, Mangles S Tags: J Thromb Haemost Source Type: research

Long-term safety and efficacy of N8-GP in previously treated adults and adolescents with hemophilia A: Final results from pathfinder2.
CONCLUSION: Data from the completed pathfinder2 trial, one of the largest and longest-running clinical trials to investigate treatment of severe hemophilia A, demonstrate the efficacy and safety of N8-GP in previously treated adolescent and adult patients. PMID: 32544297 [PubMed - as supplied by publisher] (Source: Thrombosis and Haemostasis)
Source: Thrombosis and Haemostasis - June 16, 2020 Category: Hematology Authors: Giangrande P, Abdul Karim F, Nemes L, You CW, Landorph A, Geybels MS, Curry N Tags: J Thromb Haemost Source Type: research

Neutralizing antidrug antibody to emicizumab in a patient with severe hemophilia A with inhibitors: New case with detailed laboratory evaluation.
In this report, we describe a patient with severe hemophilia A with inhibitors who developed a neutralizing anti-drug antibody to emicizumab, for whom we performed extensive testing in the special coagulation laboratory. PMID: 32544268 [PubMed - as supplied by publisher] (Source: Thrombosis and Haemostasis)
Source: Thrombosis and Haemostasis - June 16, 2020 Category: Hematology Authors: Druzgal CH, Kizilocak H, Brown J, Sennett M, Young G Tags: J Thromb Haemost Source Type: research

Platelet-Targeted FVIII Gene Therapy Restores Hemostasis and Induces Immune Tolerance for Hemophilia A
Platelets are small anucleated blood components primarily described as playing a fundamental role in hemostasis and thrombosis. Over the last decades, increasing evidence has demonstrated the role of platelets in modulating inflammatory reactions and immune responses. Platelets harbor several specialized organelles: granules, endosomes, lysosomes, and mitochondria that can synthesize proteins with pre-stored mRNAs when needed. While the functions of platelets in the immune response are well-recognized, little is known about the potential role of platelets in immune tolerance. Recent studies demonstrate that platelet-specif...
Source: Frontiers in Immunology - June 12, 2020 Category: Allergy & Immunology Source Type: research

Hemophilia A Inhibitor Subjects Show Unique PBMC Gene Expression Profiles That Include Up-Regulated Innate Immune Modulators
Formation of pathological anti-FVIII antibodies, or “inhibitors,” is the most serious complication of therapeutic FVIII infusions, affecting up to 1/3 of severe Hemophilia A (HA) patients. Inhibitor formation is a classical T-cell dependent adaptive immune response. As such, it requires help from the innate immune system. However, the roles of innate immune cells and mechanisms of inhibitor development vs. immune tolerance, achieved with or without Immune Tolerance Induction (ITI) therapy, are not well-understood. To address these questions, temporal transcriptomics profiling of FVIII-stimulated peripheral bloo...
Source: Frontiers in Immunology - June 12, 2020 Category: Allergy & Immunology Source Type: research

Clinical Course of Patients With Sickle Cell Anemia and Co-inherited Hematological Disorders: Experience at a Tertiary Hematological Centre
In conclusion, HbA reduces severity of HbS in HbS-β + thalassemia. HbS-HbD dis ease can manifest as a transfusion dependent illness. HbSS reduces severity of G6PD deficiency after first few years of life. HbSS and hemophilia coinheritance ameliorates symptoms of hemophilia. (Source: Indian Journal of Hematology and Blood Transfusion)
Source: Indian Journal of Hematology and Blood Transfusion - June 12, 2020 Category: Hematology Source Type: research

First application of focused low-energy extracorporeal shockwave therapy in a  patient with severe hemophilia A and plantar fasciitis.
First application of focused low-energy extracorporeal shockwave therapy in a patient with severe hemophilia A and plantar fasciitis. Wien Klin Wochenschr. 2020 Jun 12;: Authors: Wagner B, Ay C, Mickel M, Crevenna R PMID: 32533438 [PubMed - as supplied by publisher] (Source: Wiener Klinische Wochenschrift)
Source: Wiener Klinische Wochenschrift - June 12, 2020 Category: General Medicine Authors: Wagner B, Ay C, Mickel M, Crevenna R Tags: Wien Klin Wochenschr Source Type: research

The availability of new drugs for hemophilia treatment.
Authors: Morfini M, Marchesini E Abstract INTRODUCTION: A number of new FVIII/IX concentrates enriched the portfolio of products available for the treatment of hemophilia A/B patients. Due to the large inter-patient variability, accurate tailoring of the therapy became essential to improve patients' adherence, clinical outcomes, and cost/effectiveness ratio. Recently, non-replacement therapies have taken the limelight and succeeded in decreasing the bleedings of patients. AREAS COVERED: The PK characteristics, efficacy, and safety of the new rFVIII and rFIX concentrates and of non-replacement therapy, are repor...
Source: Expert Review of Clinical Pharmacology - June 11, 2020 Category: Drugs & Pharmacology Tags: Expert Rev Clin Pharmacol Source Type: research

Thromboprophylaxis in a patient with COVID-19 and severe hemophilia A on emicizumab prophylaxis.
lla S, Jiménez-Yuste V Abstract COVID-19 can be associated with coagulopathy (CAC, COVID-19-associated coagulopathy) with a high prothrombotic risk based on an intense inflammatory response to viral infection leading to immunothrombosis through different procoagulant pathways[1]. Emerging evidence suggests that the use of heparin in these patients could be associated with lower mortality[2]. PMID: 32526092 [PubMed - as supplied by publisher] (Source: Thrombosis and Haemostasis)
Source: Thrombosis and Haemostasis - June 11, 2020 Category: Hematology Authors: Rivas-Pollmar MI, Álvarez-Román MT, Butta-Coll NV, Martín Salces M, García-Barcenilla S, Jiménez-Yuste V Tags: J Thromb Haemost Source Type: research

Inherited Bleeding Disorders in Pediatric Patients; experience of the national referral center in Iraq
AbstractBackgroundInherited bleeding disorders can lead to lifelong bleeding; they are mainly caused by quantitative or qualitative defect of coagulation factors, von Willebrand factor (VWF) or platelets. No published data are available about the different types of inherited bleeding disorders in Iraq.ObjectivesTo describe types, severity and presentation of inherited bleeding disorders in pediatric patients in the major referral center in Iraq.Patients and MethodsThis is a cohort prospective descriptive study conducted at the National Center of Hematology, a referral center for bleeding disorders in Baghdad-Iraq, from Jan...
Source: Indian Journal of Hematology and Blood Transfusion - June 10, 2020 Category: Hematology Source Type: research

Pathophysiological Role of Synovitis in Hemophilic Arthropathy Development: A Two-Hit Hypothesis
Despite an increasing access to prophylaxis with clotting factor concentrates, arthropathy still represents the main chronic complication of hemophilia. Whereas previous studies described hemophilic arthropathy (HA) as a degenerative arthropathy, somehow resembling osteoarthritis (OA), most recent evidence suggests that complex inflammatory and immunologic mechanisms are also involved in the pathophysiology of HA. In the present review, we described available data on major mechanisms leading to arthropathic changes in patients with hemophilia, with a specific focus on the role of synovium. The presence of hemosiderin in th...
Source: Frontiers in Physiology - June 9, 2020 Category: Physiology Source Type: research

Fc Gamma Receptors and Complement Component 3 Facilitate Anti-fVIII Antibody Formation
Anti-factor VIII (fVIII) alloantibodies, which can develop in patients with hemophilia A, limit the therapeutic options and increase morbidity and mortality of these patients. However, the factors that influence anti-fVIII antibody development remain incompletely understood. Recent studies suggest that Fc gamma receptors (FcγRs) may facilitate recognition and uptake of fVIII by recently developed or pre-existing naturally occurring anti-fVIII antibodies, providing a mechanism whereby the immune system may recognize fVIII following infusion. However, the role of FcγRs in anti-fVIII antibody formation remains unk...
Source: Frontiers in Immunology - June 9, 2020 Category: Allergy & Immunology Source Type: research

Confronting COVID-19: Issues in Hemophilia and Congenital Bleeding Disorders
Semin Thromb Hemost DOI: 10.1055/s-0040-1712961 Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.Article in Thieme eJournals: Table of contents  |  Full text (Source: Seminars in Thrombosis and Hemostasis)
Source: Seminars in Thrombosis and Hemostasis - June 8, 2020 Category: Hematology Authors: Coppola, Antonio Tagliaferri, Annarita Rivolta, Gianna Franca Quintavalle, Gabriele Franchini, Massimo Tags: Commentary Source Type: research

Medical expenditure for patients with hemophilia in urban China: data from medical insurance information system from 2013 to 2015
Hemophilia, a high-cost disease, is the only rare disease covered by basic medical insurance in all province of China. However, very few studies have estimated the medical expenditure of patients with this rar... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 5, 2020 Category: Internal Medicine Authors: Guang-wen Gong, Ying-chun Chen, Peng-qian Fang and Rui Min Tags: Research Source Type: research

Population Pharmacokinetic Analysis and Exploratory Exposure –Bleeding Rate Relationship of Emicizumab in Adult and Pediatric Persons with Hemophilia A
ConclusionsEmicizumab pharmacokinetics in PwHA was described with dose-independent parameters. Body weight was an important predictor of emicizumab pharmacokinetics. All three dosing regimens are predicted to achieve similar exposure associated with clinically meaningful prevention of bleeding. (Source: Clinical Pharmacokinetics)
Source: Clinical Pharmacokinetics - June 5, 2020 Category: Drugs & Pharmacology Source Type: research

Therapeutic value of kinesio taping in reducing lower back pain and improving back muscle endurance in adolescents with hemophilia.
CONCLUSION: KT is an effective adjunctive therapy to reduce lower back pain, improve back muscle endurance, and enhance functional capacity in adolescents with hemophilia. PMID: 32481241 [PubMed - in process] (Source: Journal of Musculoskeletal Neuronal Interactions)
Source: Journal of Musculoskeletal Neuronal Interactions - June 4, 2020 Category: Neurology Tags: J Musculoskelet Neuronal Interact Source Type: research

HemoMIPs —Automated analysis and result reporting pipeline for targeted sequencing data
We present a fast and efficient workflow to analyze highly imbalanced, targeted next-generation sequencing data generated using molecular inversion probe (MIP) capture. Our Snakemake pipeli ne performs sample demultiplexing, overlap paired-end merging, alignment, MIP-arm trimming, variant calling, coverage analysis and report generation. Further, we support the analysis of probes specifically designed to capture certain structural variants and can assign sex using Y-chromosome-unique p robes. In a user-friendly HTML report, we summarize all these results including covered, incomplete or missing regions, called variants and...
Source: PLoS Computational Biology - June 4, 2020 Category: Biology Authors: Philip Kleinert Source Type: research

Susoctocog-alfa (Obizur ®) in the treatment of nine elderly patients with acquired haemophilia A: an Italian multicentre real world experience.
The objective of this retrospective study was to describe the efficacy and the safety of susoctocog-alfa for AHA. MATERIAL AND METHODS: We studied a population of nine patients, recruited in five Italian haemophilia centres presenting AHA, and treated with Obizur® as first- or second-line therapy. fir RESULTS: rpFVIII was used as a first-line therapy in one-third of the patients. The median delay between clinical onset and diagnosis was 16 days. Initial bolus of infused susoctocog-alfa was 100 IU/kg, lower than the recommended dose. The treatment was maintained for a median of four days. Only one patient with seri...
Source: Blood Transfusion - June 4, 2020 Category: Hematology Authors: Zanon E, Pasca S, Borchiellini A, Lodigiani C, Molinari AC, Ambaglio C, Valeri F, Preti PS, Moscatelli P, Simioni P Tags: Blood Transfus Source Type: research

Successful Treatment of Acquired Hemophilia A with Bortezomib Plus Low Dose Rituximab in a Patient with Renal Failure and Severe Pneumonia
(Source: Indian Journal of Hematology and Blood Transfusion)
Source: Indian Journal of Hematology and Blood Transfusion - June 3, 2020 Category: Hematology Source Type: research

Acquired Haemophilia A in DPP4 Inhibitor-induced Bullous Pemphigoid as Immune Reconstitution Syndrome.
PMID: 32494825 [PubMed - as supplied by publisher] (Source: Acta Dermato-Venereologica)
Source: Acta Dermato-Venereologica - June 3, 2020 Category: Dermatology Authors: Sugiyama S, Tanaka R, Hayashi H, Izumi K, Nishie W, Aoyama Y Tags: Acta Derm Venereol Source Type: research

Understanding haemophilia caregiver burden: does appraisal buffer the impact of haemophilia on caregivers over time?
. (Source: Psychology and Health)
Source: Psychology and Health - June 1, 2020 Category: Psychiatry & Psychology Authors: Carolyn E. Schwartz Roland B. Stark Wesley Michael Bruce D. Rapkin Source Type: research

von Willebrand Factor and Factor VIII Clearance in Perioperative Hemophilia A Patients.
roup Abstract BACKGROUND:  von Willebrand factor (VWF) is crucial for optimal dosing of factor VIII (FVIII) concentrate in hemophilia A patients as it protects FVIII from premature clearance. To date, it is unknown how VWF behaves and what its impact is on FVIII clearance in the perioperative setting. AIM:  To investigate VWF kinetics (VWF antigen [VWF:Ag]), VWF glycoprotein Ib binding (VWF:GPIbM), and VWF propeptide (VWFpp) in severe and moderate perioperative hemophilia A patients included in the randomized controlled perioperative OPTI-CLOT trial. METHODS:  Linear mixed effects modeling...
Source: Thrombosis and Haemostasis - June 1, 2020 Category: Hematology Authors: van Moort I, Bukkems LH, Heijdra JM, Schutgens REG, Laros-van Gorkom BAP, Nieuwenhuizen L, van der Meer FJM, Fijnvandraat K, Ypma P, de Maat MPM, Leebeek FWG, Meijer K, Eikenboom J, Mathôt RAA, Cnossen MH, OPTI-CLOT Study Group Tags: Thromb Haemost Source Type: research

Postoperative hemorrhage secondary to acquired hemophilia A
This article describes a patient successfully treated with recombinant factor VIIa, porcine factor VIII, plasmapheresis, rituximab, and high-dose corticosteroids. (Source: Journal of the American Academy of Physician Assistants)
Source: Journal of the American Academy of Physician Assistants - May 28, 2020 Category: Primary Care Tags: Case Report Source Type: research

Efficacy and safety of rIX-FP in surgery: An update from a phase 3b extension study
Patients with hemophilia are at a high risk of developing arthropathy and so are more likely to require surgery during their lifetime; in particular, major orthopedic surgery [1]. The management of patients with hemophilia undergoing surgery has additional considerations, as they are more likely to experience excessive or prolonged bleeding and associated complications, compared with patients without hemophilia [2]. (Source: Thrombosis Research)
Source: Thrombosis Research - May 28, 2020 Category: Hematology Authors: Brigitte Pan-Petesch, Azusa Nagao, Faraizah Abdul Karim, Alberto Tosetto, Maria Teresa Alvarez Roman, Wilfried Seifert, Yanyan Li, Claude N égrier Tags: Letter to the Editors-in-Chief Source Type: research

Investigation of discordant phenotype in mild Hemophilia A using whole exome sequencing
Classification of the X-linked recessive bleeding disorder Hemophilia A (HA) is based on residual Factor VIII activity level (FVIII:C) that largely correlates with bleeding severity. Understanding the underlying basis for bleeding phenotypes differing from those predicted by FVIII:C should refine classification of patients, clarify genotype-phenotype correlations, and improve clinical management of persons with HA. (Source: Thrombosis Research)
Source: Thrombosis Research - May 28, 2020 Category: Hematology Authors: Peter H. Cygan, Sarah E. Arnold-Croop, Elizabeth A. Weidman, Fang Chen, Dajiang J. Liu, M. Elaine Eyster, Laura Carrel Tags: Letter to the Editors-in-Chief Source Type: research

Bleeds and imaging scoring scales in relation to pharmacokinetics of coagulation factor VIII in Chinese pediatric patients with severe hemophilia A
Hemophilia A is a bleeding disorder due to the deficiency of coagulation factor VIII (FVIII). According to resident FVIII activity, the disease was divided into mild type (FVIII:c  > 5 IU/dL), moderate type (FVIII:c 1–5 IU/dL) and severe type (FVIII:c  (Source: Thrombosis Research)
Source: Thrombosis Research - May 28, 2020 Category: Hematology Authors: Kun Huang, Zhenping Chen, Gang Li, Yingzi Zhen, Xinyi Wu, Ningning Zhang, Runhui Wu Tags: Letter to Editors-in-Chief Source Type: research

Six molecular patterns leading to hemophilia A phenotype in 18 females from Poland
Female hemophilia is an intriguing rare disorder and few larger reports on its genetic etiology are available. While historically the diagnosis was satisfactorily reached by factor VIII activity assays, the clinical and potentially therapeutic heterogeneity of female hemophilia calls for comprehensive molecular diagnosis in each case. Currently, the genetic investigations are not a part of routine, state-funded, diagnostics in Poland, and thus molecular epidemiological data are missing. (Source: Thrombosis Research)
Source: Thrombosis Research - May 28, 2020 Category: Hematology Authors: Szymon Janczar, Katarzyna Babol-Pokora, Izabela Jatczak-Pawlik, Joanna Taha, Anna Klukowska, Pawel Laguna, Jerzy Windyga, Edyta Odnoczko, Joanna Zdziarska, Teresa Iwaniec, Andrzej Koltan, Micha ł Jamrozik, Iwona Rurańska, Karolina Janczar, Tomasz Szczep Tags: Full Length Article Source Type: research

Identification and expression of a novel heterozygous frameshift mutation in FGA accounting for congenital hypofibrinogenemia in carriers of severe hemophilia A
Fibrinogen is a hexameric 340-kDa glycoprotein made of two sets of three different polypeptides: A α, Bβ, and γ, encoded by genes FGA, FGB, and FGG that are clustered in a region of 50-kb on chromosome 4 (4q31-32). By bridging blood platelets, serving as the precursor to fibrin, and allowing a proper distribution of erythrocytes, macrophages and fibroblasts around the wound, fibrinogen has a m ajor role in both primary and secondary hemostasis [1]. (Source: Thrombosis Research)
Source: Thrombosis Research - May 28, 2020 Category: Hematology Authors: Rui Vilar, Alessandro Casini, Alexandra Fournel, Guillaume Mourey, Marguerite Neerman-Arbez Tags: Letter to the Editors-in-Chief Source Type: research

Kreuth V initiative: European consensus proposals for treatment of haemophilia using standard products, extended half-life coagulation factor concentrates and non-replacement therapies.
This report contains the updated consensus recommendations for optimal haemophilia care produced in 2019 by three Working Groups (WG) on behalf of European Directorate for Quality of Medicines & Healthcare in the frame of the Kreuth V Initiative. WG1 recommended the access to prophylaxis for all patients, the attainment of plasma factor trough levels of at least 3-5% when extended half-life FVIII and FIX products are used, treatment regimen personalisation and choice of chromogenic assays for treatment monitoring. It was also emphasized that innovative therapies should be supervised by Haemophilia Comprehensive Care Ce...
Source: Haematologica - May 28, 2020 Category: Hematology Authors: Peyvandi F, Berger K, Seitz R, Hilger A, Hecquet ML, Wierer M, Buchheit KH, O Mahony B, Bok A, Makris M, Mansmann U, Schramm W, Mannucci PM Tags: Haematologica Source Type: research

Deciphering the Ets-1/2-mediated transcriptional regulation of F8 gene identifies a minimal F8 promoter for hemophilia A gene therapy.
Follenzi A Abstract A major challenge in the development of a gene therapy for hemophilia A (HA) is the selection of cell type- or tissue-specific promoters to ensure factor VIII (FVIII) expression without eliciting an immune response. As liver sinusoidal endothelial cells (LSECs) are the major FVIII source, understanding the transcriptional F8 regulation in these cells would help optimize the minimal F8 promoter (pF8) to efficiently drive FVIII expression. In silico analyses predicted several binding sites (BS) for the E26 transformation-specific (Ets) transcription factors Ets-1 and Ets-2 in the pF8. Reporter a...
Source: Haematologica - May 28, 2020 Category: Hematology Authors: Famà R, Borroni E, Merlin S, Airoldi C, Pignani S, Cucci A, Corà D, Bruscaggin V, Scardellato S, Faletti S, Pelicci G, Pinotti M, Walker GE, Follenzi A Tags: Haematologica Source Type: research

Acquired hemophilia A revealed by spontaneous bleeding in an 80-year-old man: a marginal diagnosis?
. (Source: Acta Clinica Belgica)
Source: Acta Clinica Belgica - May 27, 2020 Category: General Medicine Authors: Marie Gicart Anne De Weweire Anne Demulder Virginie De Wilde Source Type: research

Efficacy of therapeutic plasma exchange in patient with coagulation inhibitors (Acquired haemophilia A) – A case report
A rare phenomenon known as acquired haemophilia is due to formation of antibodies against coagulation factors which can be idiopathic (mostly) or due to disseminated tuberculosis or paraneoplastic response or due to association with autoimmune disease, or recent pregnancy1. In acquired FVIII deficiency, haemorrhage tends to affect skin, muscle, soft tissue, and mucous membranes, rather than haemarthrosis2. The incidence of the acquired FVIII inhibitor is (Source: Transfusion and Apheresis Science)
Source: Transfusion and Apheresis Science - May 24, 2020 Category: Hematology Authors: Sangeeta Kumari, Parmatma Prasad Tripathi, Ratti Ram Sharma, Rekha Hans, Divjot singh Lamba Tags: Case Report Source Type: research

Efficacy of therapeutic plasma exchange in a patient with coagulation inhibitors (acquired haemophilia A) – A case report
We report a case of 73 year old male who presented with haematuria, prolonged activated partial thromboplastin time (APTT) and a very high titres of Factor VIII inhibitors of 98 Bethesda units (BU) and was diagnosed with acquired haemophilia A. (Source: Transfusion and Apheresis Science)
Source: Transfusion and Apheresis Science - May 24, 2020 Category: Hematology Authors: Sangeeta Kumari, Parmatma Prasad Tripathi, Ratti Ram Sharma, Rekha Hans, Divjot Singh Lamba, Alka Khadwal, Charanpreet Singh Tags: Case Report Source Type: research