240 results match your criteria Hemophilia Overview


Acquired bleeding disorders.

Haemophilia 2022 May;28 Suppl 4:68-76

Surgical Research Laboratory and Section of Hepatobiliary Surgery and Liver Transplantation, Department of Surgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Acquired bleeding disorders can accompany hematological, neoplastic, autoimmune, cardiovascular or liver diseases, but can sometimes also arise spontaneously. They can manifest as single factor deficiencies or as complex hemostatic abnormalities. This review addresses (a) acquired hemophilia A, an autoimmune disorder characterized by inhibitory autoantibodies against coagulation factor VIII; (b) acquired von Willebrand syndrome in patients with cardiovascular disorders, where shear stress abnormalities result in destruction of von Willebrand factor; and (c) liver function disorders that comprise complex changes in pro- and anti-hemostatic factors, whose clinical implications are often difficult to predict. Read More

View Article and Full-Text PDF

Bleeding Disorders in Women and Girls: State of the Science and CDC Collaborative Programs.

J Womens Health (Larchmt) 2022 03;31(3):301-309

Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

Women and girls with bleeding disorders experience abnormal and excessive bleeding that can negatively impact their overall health and quality of life. In this report, we provide an overview of the biology, types, clinical care, and state of the science related to bleeding disorders in girls and women and describe Centers for Disease Control and Prevention (CDC) activities related to (1) surveillance of bleeding disorders in women; (2) scientific review, research, and collaboration to inform health care gaps in identifying and caring for women with bleeding disorders; and (3) development of health promotion and education programs to bring awareness about bleeding disorders to both women and girls in the population at large and various health care providers who care for women. Findings generated from surveillance and research activities inform the development of new public health programs aimed at improving diagnostic and health care services and empowering women with bleeding disorders with the knowledge they need to navigate a complex health care system with the need for specialty care services. Read More

View Article and Full-Text PDF

Haemophilia management and treatment: An Italian survey on patients', caregivers' and clinicians' point of view.

Haemophilia 2022 Mar 8;28(2):254-263. Epub 2022 Feb 8.

Research Centre on Public Health (CESP), University of Milano-Bicocca, Monza, Italy.

Introduction: Haemophilia management and patients' quality of life significantly improved. However, data on current patients', caregivers' and clinicians' satisfaction and limitations of treatments and haemophilia management are limited.

Aim: Assessing the management satisfaction and unmet needs from the perspective of Italian patients with haemophilia (PWH) without inhibitors (or caregivers if children) and of specialist physicians. Read More

View Article and Full-Text PDF

An Update on Laboratory Diagnostics in Haemophilia A and B.

Hamostaseologie 2022 Feb 1. Epub 2022 Feb 1.

Department of Thrombosis and Haemostasis, Giessen University Hospital, Giessen, Germany.

Haemophilia A (HA) and B (HB) are X-linked hereditary bleeding disorders caused by lack of activity of coagulation factors VIII (FVIII) or IX (FIX), respectively. Besides conventional products, modern replacement therapies include FVIII or FIX concentrates with an extended half-life (EHL-FVIII/FIX). Two main strategies for measuring plasma FVIII or FIX activity are applied: the one-stage clotting assay (OSCA) and the chromogenic substrate assay (CSA), both calibrated against plasma (FVIII/FIX) standards. Read More

View Article and Full-Text PDF
February 2022

Haemophilia in France: Modelisation of the Clinical Pathway for Patients.

Int J Environ Res Public Health 2022 01 6;19(2). Epub 2022 Jan 6.

Laboratory P2S (Health Systemic Process), UR 4129, Faculty of Medicine Laennec, University Claude Bernard Lyon 1, University of Lyon, 69008 Lyon, France.

Process-of-care studies participate in improving the efficiency of the care pathway for patient with haemophilia (CPPH) and rationalize the multidisciplinary management of patients. Our objective is to establish a current overview of the different actors involved in the management of patients with haemophilia and to provide an accurate description of the patient trajectory. This is a qualitative exploratory research based on interviews of the principal health professionals of four haemophilia services, between November 2019 and February 2020, in France. Read More

View Article and Full-Text PDF
January 2022

Advances in the management of haemophilia: emerging treatments and their mechanisms.

J Biomed Sci 2021 Sep 14;28(1):64. Epub 2021 Sep 14.

Imperial College London: Faculty of Medicine, Imperial College Road, London, SW7 2DD, UK.

Mainstay haemophilia treatment, namely intravenous factor replacement, poses several clinical challenges including frequent injections due to the short half-life of recombinant factors, intravenous administration (which is particularly challenging in those with difficult venous access), and the risk of inhibitor development. These impact negatively upon quality of life and treatment compliance, highlighting the need for improved therapies. Several novel pharmacological therapies developed for haemophilia aim to rebalance the clotting cascade and potentially circumvent the aforementioned challenges. Read More

View Article and Full-Text PDF
September 2021

Population pharmacokinetic modeling of factor concentrates in hemophilia: an overview and evaluation of best practice.

Blood Adv 2021 10;5(20):4314-4325

Department of Pediatric Hematology and Oncology, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands; and.

The accuracy of pharmacokinetic (PK)-guided dosing depends on the clinical and laboratory data used to construct a population PK model, as well as the patient's individual PK profile. This review provides a detailed overview of data used for published population PK models for factor VIII (FVIII) and factor IX (FIX) concentrates, to support physicians in their choices of which model best suits each patient. Furthermore, to enhance detailed data collection and documentation, we do suggestions for best practice. Read More

View Article and Full-Text PDF
October 2021

The intersection of vector biology, gene therapy, and hemophilia.

Res Pract Thromb Haemost 2021 Aug 1;5(6):e12586. Epub 2021 Sep 1.

National Hemophilia Foundation New York NY USA.

Gene therapy is at the forefront of the drive to bring the potential of cure to patients with genetic diseases. Multiple mechanisms of effective and efficient gene therapy delivery (eg, lentiviral, adeno-associated) for transgene expression as well as gene editing have been explored to improve vector and construct attributes and achieve therapeutic success. Recent clinical research has focused on recombinant adeno-associated viral (rAAV) vectors as a preferred method owing to their naturally occurring vector biology characteristics, such as serotypes with specific tissue tropisms, facilitated in vivo delivery, and stable physicochemical properties. Read More

View Article and Full-Text PDF

Orthopedic surgery in hemophilic patients with musculoskeletal disorders: A systematic review.

Exp Ther Med 2021 Sep 14;22(3):995. Epub 2021 Jul 14.

Department of Pathophysiology, Morfo-Functional Sciences (II), Faculty of Medicine, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania.

Hemophilia is a hereditary coagulopathy caused by factor VIII (hemophilia type A) or by coagulation factor IX (hemophilia type B) dysfunction, characterized by an increased bleeding predisposition, which is either spontaneous or secondary to minimal trauma. Currently, hemophilia may also be considered an 'orthopedic' condition, due to the fact that it affects the musculoskeletal system of most hemophilic patients. In recent years, constant prophylaxis using coagulation factors has led to a significant improvement in the hemophilic patient's quality of life, by reducing both life-threatening hemorrhagic phenomena, as well as the occurrence of chronic complications. Read More

View Article and Full-Text PDF
September 2021

Progress in gene therapy treatments for prostate cancer.

Biotechnol Appl Biochem 2021 May 14. Epub 2021 May 14.

Institute of Nano Electronic Engineering, Universiti Malaysia Perlis (UniMAP), Kangar, Perlis, 01000, Malaysia.

Prostate cancer is one of the predominant cancers affecting men and has been widely reported. In the past, various therapies and drugs have been proposed to treat prostate cancer. Among these treatments, gene therapy has been considered to be an optimal and widely applicable treatment. Read More

View Article and Full-Text PDF

Post-authorization pharmacovigilance for hemophilia in Europe and the USA: Independence and transparency are keys.

Blood Rev 2021 09 20;49:100828. Epub 2021 Mar 20.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Fondazione Luigi Villa, Milan, Italy.

The regulatory process is currently designed to ensure drug safety during the pre-marketing process. Due to limitations of the pivotal studies owing to their short duration and small number of highly selected cases, some adverse drug reactions (ADRs) are not detected, particularly the rarest and those which appear a long time after exposure. Thus it is essential to foster pharmacovigilance run totally independently from marketing authorization holders in order to attain transparent surveillance. Read More

View Article and Full-Text PDF
September 2021

Assessing Plasmin Generation in Health and Disease.

Int J Mol Sci 2021 Mar 9;22(5). Epub 2021 Mar 9.

Synapse Research Institute, 6217 KD Maastricht, The Netherlands.

Fibrinolysis is an important process in hemostasis responsible for dissolving the clot during wound healing. Plasmin is a central enzyme in this process via its capacity to cleave fibrin. The kinetics of plasmin generation (PG) and inhibition during fibrinolysis have been poorly understood until the recent development of assays to quantify these metrics. Read More

View Article and Full-Text PDF

Haemophilia, state of the art and new therapeutic opportunities, a regulatory perspective.

Br J Clin Pharmacol 2021 11 12;87(11):4183-4196. Epub 2021 Apr 12.

National Center for Drug Research and Evaluation, Istituto Superiore di Sanità, Rome, Italy.

Haemophilia A and B are rare bleeding disorders. Over the past decades, they have been transformed from debilitating diseases to manageable conditions in the Western world. However, optimizing haemophilia care remains challenging in developing countries. Read More

View Article and Full-Text PDF
November 2021

Thrombotic thrombocytopenic Purpura: A nurse's perspective on a decade of treatment in Sheffield, United Kingdom.

Transfus Apher Sci 2021 Apr 1;60(2):103090. Epub 2021 Mar 1.

Advanced Nurse Practitioner in Haemophilia & Other Haemostasis Disorders, Sheffield Haemophilia & Thrombosis Centre, Royal Hallamshire Hospital, Glossop Road, Sheffield, S10 2JF, United Kingdom. Electronic address:

TTP is a rare, life threatening condition, with an annual incidence of 3-11 cases per million people. A deficiency of a vWF multimer cleaving protein, ADAMTS13 is the cause of the condition. Quick & accurate diagnosis is crucial in the safe & effective treatment of individuals presenting with this condition. Read More

View Article and Full-Text PDF

Current Clinical Applications of In Vivo Gene Therapy with AAVs.

Mol Ther 2021 02 10;29(2):464-488. Epub 2020 Dec 10.

Centre de Recherche du CHUQ-Université Laval, Québec, QC, Canada. Electronic address:

Hereditary diseases are caused by mutations in genes, and more than 7,000 rare diseases affect over 30 million Americans. For more than 30 years, hundreds of researchers have maintained that genetic modifications would provide effective treatments for many inherited human diseases, offering durable and possibly curative clinical benefit with a single treatment. This review is limited to gene therapy using adeno-associated virus (AAV) because the gene delivered by this vector does not integrate into the patient genome and has a low immunogenicity. Read More

View Article and Full-Text PDF
February 2021

An overview of patients with haemophilia A in China: Epidemiology, disease severity and treatment strategies.

Haemophilia 2021 Jan 27;27(1):e51-e59. Epub 2020 Nov 27.

State Key Laboratory of Experimental Hematology, National Clinical Research Center for Hematological Disorders, Institute of Hematology & Blood Diseases Hospital, Tianjin Laboratory of Blood Disease Gene Therapy, CAMS Key Laboratory of Gene Therapy for Blood Diseases, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.

Introduction: Haemophilia A (HA) is a rare X chromosome-linked bleeding disorder resulting in missing or defective clotting factor VIII (FVIII) and causes large disease burden.

Aim: As a member of World Federation of Hemophilia, China seeks to understand the current epidemiology, disease profile and treatment landscape of patients with HA through the Hemophilia Treatment Center Collaboration Network of China (HTCCNC).

Methods: The HTCCNC enabled data collection on patients with HA from 166 member hospitals (2007-2019) across China. Read More

View Article and Full-Text PDF
January 2021

Bleeding of unknown cause and unclassified bleeding disorders; diagnosis, pathophysiology and management.

Haemophilia 2020 Nov 23;26(6):946-957. Epub 2020 Oct 23.

Haemostasis and Thrombosis Centre, Guy's and St Thomas' Hospital NHS Foundation Trust, London, UK.

Bleeding of unknown cause (BUC), also known as unclassified bleeding disorders (UBD), has been defined as a clear bleeding tendency in the presence of normal haemostatic tests. There are challenges in the diagnosis and management of these patients. BUC/UBD encompasses a heterogenous group of disorders which may include undiagnosed rare monogenic diseases, polygenic reasons for bleeding; and patients without a clear bleeding disorder but with a previous bleeding event. Read More

View Article and Full-Text PDF
November 2020

2021 clinical trials update: Innovations in hemophilia therapy.

Am J Hematol 2021 01 2;96(1):128-144. Epub 2020 Nov 2.

Department of Pathology, Microbiology & Immunology, Vanderbilt University Medical Center, Nashville, Tennessee.

Therapies engineered to prolong clotting factor protein circulation time, manipulate the balance of pro-coagulant and anti-coagulant proteins, or introduce new genetic material to enable endogenous factor protein production dominate the clinical trial landscape of hemophilia. The availability of clotting factor concentrates and the establishment of primary prophylaxis have dramatically improved health outcomes for hemophilia patients. But, the burden of hemostatic therapy remains significant, and many barriers to consistent longitudinal use of prophylaxis exist. Read More

View Article and Full-Text PDF
January 2021

COVID-19 in benign hematology: emerging challenges and special considerations for healthcare professionals.

Expert Rev Hematol 2020 10 15;13(10):1081-1092. Epub 2020 Sep 15.

Division of Hematology and Oncology, Department of Internal Medicine, American University of Beirut Medical Center , Beirut, Lebanon.

Introduction: Many patients with inherited or acquired benign hematological disorders are at increased risk of developing severe complications from COVID-19. These patients, therefore, require specific advice regarding isolation and changes to their usual treatment schedules. Their disease can also be associated with significant burden, and they necessitate life-long and regular access to therapy, and regular follow-up consultations and hospital visits. Read More

View Article and Full-Text PDF
October 2020

Gene therapy: An updated overview on the promising success stories.

Malays J Pathol 2020 Aug;42(2):171-185

Universiti Sains Malaysia, School of Medical Sciences, Human Genome Centre, Health Campus, Kubang Kerian, Kelantan, Malaysia.

Gene therapy is a method of treatment of disease aimed at its molecular level. The progress of gene therapy, however, was as promising as it was tardy mainly due to the limitations in the resources and financial part of its development as well as owing to the rarity of most diseases it can offer its benefits to. The methods of gene therapy can vary depending on factors such as the physiology of tissue of interest, affinity of vectors to a certain type of cells, depth and accessibility of the tissue of interest, and size of the gene to be replaced or edited. Read More

View Article and Full-Text PDF

Ready for Repair? Gene Editing Enters the Clinic for the Treatment of Human Disease.

Mol Ther Methods Clin Dev 2020 Sep 3;18:532-557. Epub 2020 Jul 3.

Department of Pediatrics, Erasmus University Medical Center, Rotterdam, the Netherlands.

We present an overview of clinical trials involving gene editing using clustered interspaced short palindromic repeats (CRISPR)-CRISPR-associated protein 9 (Cas9), transcription activator-like effector nucleases (TALENs), or zinc finger nucleases (ZFNs) and discuss the underlying mechanisms. In cancer immunotherapy, gene editing is applied in T cells, transgenic T cell receptor (tTCR)-T cells, or chimeric antigen receptor (CAR)-T cells to improve adoptive cell therapy for multiple cancer types. This involves knockouts of immune checkpoint regulators such as PD-1, components of the endogenous TCR and histocompatibility leukocyte antigen (HLA) complex to generate universal allogeneic CAR-T cells, and CD7 to prevent self-destruction in adoptive cell therapy. Read More

View Article and Full-Text PDF
September 2020

An overview of vaccine design against different pathogens and cancer.

Expert Rev Vaccines 2020 08 10;19(8):699-726. Epub 2020 Aug 10.

Iranian Comprehensive Hemophilia Care Center , Tehran, Iran.

Introduction: Due to overcome the hardness of the vaccine design, computational vaccinology is emerging widely. Prediction of T cell and B cell epitopes, antigen processing analysis, antigenicity analysis, population coverage, conservancy analysis, allergenicity assessment, toxicity prediction, and protein-peptide docking are important steps in the process of designing and developing potent vaccines against various viruses and cancers. In order to perform all of the analyses, several bioinformatics tools and online web servers have been developed. Read More

View Article and Full-Text PDF

von Willebrand disease: Diagnosis and treatment, treatment of women, and genomic approach to diagnosis.

Haemophilia 2021 Feb 23;27 Suppl 3:66-74. Epub 2020 Jun 23.

Research Institute, Bloodworks Northwest, Seattle, WA, USA.

von Willebrand disease (VWD) is the most common inherited bleeding disorder. VWD is caused by deficiencies in von Willebrand factor (VWF), a critical adhesive haemostatic protein. This review provides an overview of VWD diagnosis and treatment, special considerations in treating women with VWD, and current genomic approaches to VWD. Read More

View Article and Full-Text PDF
February 2021

An overview of the pathfinder clinical trials program: Long-term efficacy and safety of N8-GP in patients with hemophilia A.

J Thromb Haemost 2020 09;18 Suppl 1:26-33

Haemophilia, Haemostasis and Thrombosis Centre, Hampshire Hospitals NHS Foundation Trust, Basingstoke, UK.

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 with this article as part of an N8-GP Supplement. Read More

View Article and Full-Text PDF
September 2020

An overview of development in gene therapeutics in China.

Gene Ther 2020 08 11;27(7-8):338-348. Epub 2020 Jun 11.

Key Laboratory of Systems Biomedicine (Ministry of Education), Shanghai Center for Systems Biomedicine, Shanghai Jiao Tong University, Shanghai, 200240, China.

After setbacks related to serious adverse events 20 years ago, gene therapy is now coming back to the central stage worldwide. In the past few years, gene therapy has shown astonishing efficacy against genetic diseases and cancers. In history, China carried out the world's second gene therapy clinical trial in 1991 for hemophilia B and approved the world's first gene therapy product-Gendicine-in 2003. Read More

View Article and Full-Text PDF

Hereditary angioedema in children and adolescents - A consensus update on therapeutic strategies for German-speaking countries.

Pediatr Allergy Immunol 2020 11 16;31(8):974-989. Epub 2020 Jul 16.

Allergology Unit, Department of Dermatology, University Hospital, Zürich, Switzerland.

Background/methods: At a consensus meeting in August 2018, pediatricians and dermatologists from German-speaking countries discussed the therapeutic strategy for the treatment of pediatric patients with type I and II hereditary angioedema due to C1 inhibitor deficiency (HAE-C1-INH) for Germany, Austria, and Switzerland, taking into account the current marketing approval status. HAE-C1-INH is a rare disease that usually presents during childhood or adolescence with intermittent episodes of potentially life-threatening angioedema. Diagnosis as early as possible and an optimal management of the disease are important to avoid ineffective therapies and to properly treat swelling attacks. Read More

View Article and Full-Text PDF
November 2020

Perioperative management for patients with von Willebrand disease: Defining the optimal approach.

Eur J Haematol 2020 Oct 3;105(4):365-377. Epub 2020 Jul 3.

Haemophilia Centre, Medical Clinic II, Institute of Transfusion Medicine, Goethe University Hospital, Frankfurt am Main, Germany.

von Willebrand disease (VWD) is the most common inherited bleeding disorder characterised by a quantitative or qualitative deficiency in von Willebrand factor (VWF). During invasive surgical procedures, patients with VWD require additional treatment to maintain haemostasis; however, due to the complexity of VWD, there is a lack of consensus on the optimal management. In the perioperative period, patients are usually treated with VWF and factor FVIII (FVIII)-containing concentrates to provide an immediate haemostatic response to prevent excessive bleeding during both elective and emergency surgery. Read More

View Article and Full-Text PDF
October 2020

Acquired bleeding disorders.

Haemophilia 2021 Feb 1;27 Suppl 3:5-13. Epub 2020 Jun 1.

Surgical Research Laboratory and Section of Hepatobiliary Surgery and Liver Transplantation, Department of Surgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Acquired bleeding disorders can accompany hematological, neoplastic, autoimmune, cardiovascular or liver diseases, but can sometimes also arise spontaneously. They can manifest as single factor deficiencies or as complex hemostatic abnormalities. This review addresses (a) acquired hemophilia A, an autoimmune disorder characterized by inhibitory autoantibodies against coagulation factor VIII; (b) acquired von Willebrand syndrome in patients with cardiovascular disorders, where shear stress abnormalities result in destruction of von Willebrand factor; and (c) liver function disorders that comprise complex changes in pro- and anti-hemostatic factors, whose clinical implications are often difficult to predict. Read More

View Article and Full-Text PDF
February 2021

Setting the scene: Historical overview of challenges and what led to advances in comprehensive care in developed countries, the Canadian experience.

Authors:
David Page

Haemophilia 2020 Apr;26 Suppl 3:4-5

Health Policy, Canadian Hemophilia Society, Montreal, QC, Canada.

The history of the development of comprehensive care for hemophilia and other inherited bleeding disorders in Canada has been long and full of challenges. From limited in-patient treatment with plasma and cryoprecipitate in a few major centres in the 1950s and 1960s, a network of Hemophilia Treatment Centres (HTCs) offering multi-disciplinary comprehensive care, home infusion and prophylaxis was established across the country by the late 1970s and early 1980s, only to be shaken by the widespread contamination of factor concentrates with HIV and HCV in the 1970s and 1980s. In recent years the mission of HTCs has expanded to better serve people with von Willebrand disease, rare factor deficiencies and other rare bleeding disorders, and more fully recognize the needs of women with bleeding disorders. Read More

View Article and Full-Text PDF

octanate: over 20 years of clinical experience in overcoming challenges in haemophilia A treatment.

Ther Adv Hematol 2020 19;11:2040620720914692. Epub 2020 Apr 19.

Haemophilia Centre Rhine Main GmbH, Hessenring 13a, Geb. G, Mörfelden-Walldorf, 64546, Germany.

Treatment of haemophilia A with FVIII replacement has evolved over the past decades to adapt to the needs of patients. octanate®, a plasma-derived, double virus-inactivated, von Willebrand factor (VWF)-containing FVIII concentrate, has been used in clinics worldwide for over 20 years. First licensed in 1998 in Germany, octanate® is approved in over 80 countries for the prevention and treatment of bleeding and for surgical prophylaxis in patients with haemophilia A, and in over 40 countries for immune tolerance induction (ITI). Read More

View Article and Full-Text PDF