189 results match your criteria Hemophilia Overview


AAV-Mediated Gene Delivery to the Liver: Overview of Current Technologies and Methods.

Methods Mol Biol 2019 ;1950:333-360

Department of Pediatrics, Indiana University, Indianapolis, IN, USA.

Adeno-associated virus (AAV) vectors to treat liver-specific genetic diseases are the focus of several ongoing clinical trials. The ability to give a peripheral injection of virus that will successfully target the liver is one of many attractive features of this technology. Although initial studies of AAV liver gene transfer revealed some limitations, extensive animal modeling and further clinical development have helped solve some of these issues, resulting in several successful clinical trials that have reached curative levels of clotting factor expression in hemophilia. Read More

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http://dx.doi.org/10.1007/978-1-4939-9139-6_20DOI Listing
January 2019
2 Reads

Inhibitors: A Need for Eradication?

Acta Haematol 2019 15;141(3):151-155. Epub 2019 Feb 15.

Division of Hematology/Oncology, Department of Pediatrics and Child Health Evaluative Sciences, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.

The development of inhibitors against factor VIII (FVIII) concentrates represents a significant treatment complication for hemophilia. Immune tolerance induction (ITI) therapy eradicates inhibitors in 60-80% of patients, resulting in a normal FVIII response. This article, based on presentations at the 6th International Coagulation Meeting, held in Barcelona, Spain, in September 2017, provides an overview of management approaches for patients with inhibitors and briefly tabulates four cases of ITI therapy (first-line or rescue ITI therapy in pediatric and adult patients) with successful outcomes. Read More

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http://dx.doi.org/10.1159/000495454DOI Listing
February 2019
1 Read

Heat-shock proteins in diagnosis and treatment: an overview of different biochemical and immunological functions.

Immunotherapy 2019 Feb;11(3):215-239

Department of Hepatitis & AIDS, Pasteur Institute of Iran, Tehran, Iran.

Heat-shock proteins (HSPs) have been involved in different functions including chaperone activity, protein folding, apoptosis, autophagy and immunity. The HSP families have powerful effects on the stimulation of innate immune responses through Toll-like receptors and scavenger receptors. Moreover, HSP-mediated phagocytosis directly enhances the processing and presentation of internalized antigens via the endocytic pathway in adaptive immune system. Read More

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https://www.futuremedicine.com/doi/10.2217/imt-2018-0105
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http://dx.doi.org/10.2217/imt-2018-0105DOI Listing
February 2019
11 Reads

Analysis of von Willebrand Disease in the South Moravian Population (Czech Republic): Results from the BRNO-VWD Study.

Thromb Haemost 2019 Apr 5;119(4):594-605. Epub 2019 Feb 5.

Haemostasis Unit, Antwerp University Hospital, Edegem, Belgium.

Background:  von Willebrand disease (VWD) is an inherited bleeding disorder caused by a quantitative (type 1 and 3) or qualitative (type 2) defect of von Willebrand factor (VWF). The heterogeneity of laboratory phenotyping makes diagnosing difficult.

Objective:  A cross-sectional, family-based VWD study in a collaboration between University Hospital Brno (Czech Republic) and Antwerp University Hospital (Belgium) to improve the understanding of laboratory phenotype/genotype correlation. Read More

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http://dx.doi.org/10.1055/s-0039-1678528DOI Listing
April 2019
4 Reads

Thrombotic complications in adult patients with severe single coagulation factor or platelet defects - an overview.

Expert Rev Hematol 2019 Feb 28;12(2):119-128. Epub 2019 Jan 28.

a Section for Hematology, Department of Clinical Science , University of Bergen , Bergen , Norway.

Introduction: Even though thrombotic events are rare in patients with coagulation deficiencies, several cases of both arterial and venous thromboses have been reported in patients with single coagulation factor defects and platelet defects. Thromboses have been described both in hemophilia A and B, von Willebrand disease as well as in many other rare congenital coagulation factor and platelet defects. Thromboses may also occur in patients with acquired hemophilia and in patients with severe thrombocytopenia due to hematological malignancies or intensive chemotherapy. Read More

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http://dx.doi.org/10.1080/17474086.2019.1570126DOI Listing
February 2019
5 Reads

Prevention and Management of Bleeding Episodes in Patients with Acquired Hemophilia A.

Authors:
Paul Knöbl

Drugs 2018 Dec;78(18):1861-1872

Department of Medicine 1, Division of Hematology and Hemostasis, Medical University of Vienna, Währinger Gürtel 18-20, 1090, Vienna, Austria.

Acquired hemophilia A (AHA) is a rare autoimmune disease caused by autoantibodies inhibiting the function of coagulation factor VIII. It is characterized by spontaneous bleeding in patients with no previous family or personal history of bleeding. Although several large registries have collected clinical data on AHA, limited information is available on the optimal management of AHA because controlled clinical trials are lacking. Read More

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http://link.springer.com/10.1007/s40265-018-1027-y
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http://dx.doi.org/10.1007/s40265-018-1027-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6294818PMC
December 2018
11 Reads

Adherence to prophylactic haemophilic treatment in young patients transitioning to adult care: A qualitative review.

Haemophilia 2018 Nov;24(6):862-872

Pfizer, Ballerup, Denmark.

Recombinant prophylactic treatment (PTX) has greatly improved morbidity, mortality and health-related quality of life (HRQoL) in patients with severe haemophilia. Yet, treatment adherence appears suboptimal in adolescents and young adults with haemophilia (YWH). Young patients experience major biopsychosocial changes challenging their adherence through the transition from parental to self-care, from paediatric to adult care. Read More

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http://doi.wiley.com/10.1111/hae.13621
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http://dx.doi.org/10.1111/hae.13621DOI Listing
November 2018
16 Reads

Measurement of joint health in persons with haemophilia: A systematic review of the measurement properties of haemophilia-specific instruments.

Haemophilia 2019 Jan 14;25(1):e1-e10. Epub 2018 Nov 14.

Van Creveldkliniek, Department of Hematology, University Medical Center, Utrecht, The Netherlands.

Introduction: Accurate assessment of joint health in persons with haemophilia is crucial. Several haemophilia-specific measurement tools are available, but an overview of the measurement properties is lacking.

Aim: To provide an overview of the measurement properties of haemophilia-specific measurement tools to assess clinical joint health. Read More

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http://dx.doi.org/10.1111/hae.13631DOI Listing
January 2019
3 Reads

Platelet Signaling in Primary Haemostasis and Arterial Thrombus Formation: Part 1.

Hamostaseologie 2018 Nov 23;38(4):203-210. Epub 2018 Oct 23.

Division of Clinical and Experimental Hemostasis, Hemotherapy and Transfusion Medicine, University Blood Center, and Haemophilia Comprehensive Care Center, Institute of Transplantation Diagnostics and Cell Therapeutics, Heinrich Heine University Medical Center, Düsseldorf, Germany.

Platelets react immediately in response to traumatic vascular injury by adhesion, activation, aggregation and subsequent haemostatic plug formation. While this reaction pattern is essential for haemostasis, platelet responses can also cause occlusive thrombi in diseased arteries, leading to myocardial infarction or stroke. Initially, flowing platelets are captured from the circulation to vascular lesions. Read More

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http://dx.doi.org/10.1055/s-0038-1675144DOI Listing
November 2018
14 Reads

Anti-tissue factor pathway inhibitor (TFPI) therapy: a novel approach to the treatment of haemophilia.

Authors:
Pratima Chowdary

Int J Hematol 2018 Oct 9. Epub 2018 Oct 9.

KD Haemophilia and Thrombosis Centre, Royal Free London NHS Foundation Trust, London, UK.

Novel approaches to the treatment of haemophilia are needed due to the limitations of the current standard of care, factor replacement therapy. Aspirations include lessening the treatment burden and effectively preventing joint damage. Treating haemophilia by restoring thrombin generation may be an effective approach. Read More

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http://dx.doi.org/10.1007/s12185-018-2548-6DOI Listing
October 2018
4 Reads

In Vivo Genome Editing as a Therapeutic Approach.

Int J Mol Sci 2018 Sep 12;19(9). Epub 2018 Sep 12.

Disease Modeling and Therapeutics Laboratory, A*STAR Institute of Molecular and Cell Biology, 61 Biopolis Drive Proteos, Singapore 138673, Singapore.

Genome editing has been well established as a genome engineering tool that enables researchers to establish causal linkages between genetic mutation and biological phenotypes, providing further understanding of the genetic manifestation of many debilitating diseases. More recently, the paradigm of genome editing technologies has evolved to include the correction of mutations that cause diseases via the use of nucleases such as zinc-finger nucleases (ZFN), transcription activator-like effector nucleases (TALENs), and more recently, Cas9 nuclease. With the aim of reversing disease phenotypes, which arise from somatic gene mutations, current research focuses on the clinical translatability of correcting human genetic diseases in vivo, to provide long-term therapeutic benefits and potentially circumvent the limitations of in vivo cell replacement therapy. Read More

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http://www.mdpi.com/1422-0067/19/9/2721
Publisher Site
http://dx.doi.org/10.3390/ijms19092721DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6163904PMC
September 2018
26 Reads

Diagnostic strategies in disorders of hemostasis.

Vnitr Lek Summer 2018;64(5):537-544

Hemostasis is a complicated biological system, where the balance between procoagulation and anticoagulation processes maintains fluidity of blood through intact blood vessels and creates thrombi when it is needed to prevent bleeding from the impaired vessels. The modern model of hemostasis is divided into 2 principal phases, the first being defined as primary hemostasis which involves the platelet-vessel interplay, while the second, defined as secondary hemostasis, mainly involves coagulation factors and surfaces of activated cells. The activation and amplification of the coagulation cascade is regulated by natural inhibitors of coagulation. Read More

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September 2018
10 Reads

Review of molecular mechanisms at distal Xq28 leading to balanced or unbalanced genomic rearrangements and their phenotypic impacts on hemophilia.

Authors:
N Lannoy C Hermans

Haemophilia 2018 Sep 8;24(5):711-719. Epub 2018 Aug 8.

Hemostasis and Thrombosis Unit, Hemophilia Clinic, Division of Hematology, Cliniques Universitaires Saint-Luc, Brussels, Belgium.

The distal Xq28 region is very gene-rich, comprising a relatively large number of low-copy repeats (LCRs) predisposing to genomic rearrangements. The best-known rearrangement at this locus is the F8 intron 22 inversion, responsible for up to 45% of severe hemophilia A (HA) cases. An additional inversion of intron 1 of F8 has more recently been described, affecting 2%-5% of patients with severe HA. Read More

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http://dx.doi.org/10.1111/hae.13569DOI Listing
September 2018
3 Reads

Preventing or Eradicating Factor VIII Antibody Formation in Patients with Hemophilia A: What Can We Learn from Other Disorders?

Semin Thromb Hemost 2018 Sep 25;44(6):531-543. Epub 2018 Jul 25.

Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands.

Eradication of factor VIII (FVIII) specific neutralizing antibodies (also known as inhibitors) by the traditional method of immune tolerance induction (ITI) is costly and unsuccessful in one out of three patients. Furthermore, effective inhibitor prevention strategies are presently lacking. An overview is given in this narrative review of antidrug antibody prevention or eradication strategies that have been used in disorders beyond hemophilia A, with the aim of analyzing what we can learn from these strategies for hemophilia A. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1666823
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http://dx.doi.org/10.1055/s-0038-1666823DOI Listing
September 2018
25 Reads

Postanalytical considerations that may improve the diagnosis or exclusion of haemophilia and von Willebrand disease.

Haemophilia 2018 Nov 19;24(6):849-861. Epub 2018 Jul 19.

Section of Clinical Biochemistry, University of Verona, Verona, Italy.

von Willebrand disease (VWD) and haemophilia represent the most common inherited or acquired bleeding disorders. However, many laboratories and clinicians may be challenged by their accurate diagnosis or exclusion. Difficulties in diagnosis/exclusion may include analytical issues, where assays occasionally generate an incorrect result (ie representing an analytical error) or have limitations in their measurement range of and/or low analytical sensitivity. Read More

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http://dx.doi.org/10.1111/hae.13587DOI Listing
November 2018
4 Reads

Perioperative Management of Patients with Hemophilia during Spinal Surgery.

Asian Spine J 2018 Jun 4;12(3):442-445. Epub 2018 Jun 4.

Department of Orthopedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Study Design: Single-center retrospective study.

Purpose: To optimize the perioperative management of patients with hemophilia who are undergoing spinal surgery.

Overview Of Literature: Hemophilia is a rare disease in which there is a tendency of bleeding because of a congenital deficiency in blood coagulation factor activity. Read More

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http://dx.doi.org/10.4184/asj.2018.12.3.442DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6002184PMC
June 2018
26 Reads

Preanalytical issues that may cause misdiagnosis in haemophilia and von Willebrand disease.

Haemophilia 2018 Mar 22;24(2):198-210. Epub 2017 Dec 22.

Section of Clinical Biochemistry, University of Verona, Verona, Italy.

von Willebrand disease (VWD) and haemophilia represent common inherited or acquired bleeding disorders, but many laboratories and clinicians continue to struggle with their diagnosis or exclusion. Difficulties in achieving a correct diagnosis or exclusion of VWD or haemophilia might be due to analytical issues. Sometimes assays may generate a wrong result (ie an analytical error) or may have limitations in their dynamic range of measurement and/or their level of low analytical sensitivity. Read More

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http://dx.doi.org/10.1111/hae.13396DOI Listing
March 2018
5 Reads

Orthopaedic procedures in haemophilia.

Clin Cases Miner Bone Metab 2017 May-Aug;14(2):197-199. Epub 2017 Oct 25.

Orthopaedic Clinic, Department of Medicine and Translational Medicine, University of Florence, Italy.

Haemophilia may nowadays be considered an "ortho paedic" disease given due to the involvement of musculoskeletal system in almost all haemophilic subjects. The modern haematological prophylaxis has dramatically improved the quality of life reducing bleedings and life-threatening complications; however, joint bleedings, progressive and irreversible arthropathy and osteoporosis are still now common challenging issues to be faced. One of the tissues involved by Haemophilia is the bone, particularly in the periarticular zone: poor bone quality and decrease of bone stock are typical patterns, and the worse is the arthropathy, the greater the bone loss. Read More

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http://dx.doi.org/10.11138/ccmbm/2017.14.1.197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726209PMC
October 2017
5 Reads

A contemporary look at FVIII inhibitor development: still a great influence on the evolution of hemophilia therapies.

Expert Rev Hematol 2018 02 4;11(2):87-97. Epub 2018 Jan 4.

f St. George's Healthcare NHS Trust Haemophilia Centre , London , UK.

Introduction: The development of inhibitors against factor VIII (FVIII) replacement therapy remains the most important challenge for clinicians in the treatment of hemophilia patients. This review focusses on risk factors and management of FVIII inhibitors, particularly in light of SIPPET study findings and subsequent analyses. Areas covered: A brief history and evolution of hemophilia therapies is provided, including an overview of conventional and new (including investigational) therapeutic approaches for the treatment of hemophilia. Read More

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http://dx.doi.org/10.1080/17474086.2018.1419862DOI Listing
February 2018
14 Reads

Use of telehealth in the delivery of comprehensive care for patients with haemophilia and other inherited bleeding disorders.

Authors:
R Kulkarni

Haemophilia 2018 Jan 5;24(1):33-42. Epub 2017 Dec 5.

Pediatrics and Human Development, Michigan State University, East Lansing, MI, USA.

Advances in technology such as telemedicine (TM) have made access to cost-effective, quality health care feasible for remote patients. TM is especially well suited for patients with chronic disorders such as haemophilia and related haemostatic disorders that benefit not only from more frequent interaction with care providers at a specialized haemophilia treatment center but also from consultations with other specialists. Telehealth refers to a broader application of TM and includes non-clinical services such as education, provider training, administrative meetings etc. Read More

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http://dx.doi.org/10.1111/hae.13364DOI Listing
January 2018
2 Reads

Measuring activities and participation in persons with haemophilia: A systematic review of commonly used instruments.

Haemophilia 2018 Mar 27;24(2):e33-e49. Epub 2017 Nov 27.

Department of Child Development and Exercise, University Medical Center Utrecht and Children's Hospital, Utrecht University, The Netherlands.

Introduction: Monitoring clinical outcome in persons with haemophilia (PWH) is essential in order to provide optimal treatment for individual patients and compare effectiveness of treatment strategies. Experience with measurement of activities and participation in haemophilia is limited and consensus on preferred tools is lacking.

Aim: The aim of this study was to give a comprehensive overview of the measurement properties of a selection of commonly used tools developed to assess activities and participation in PWH. Read More

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http://dx.doi.org/10.1111/hae.13367DOI Listing
March 2018
2 Reads

Emicizumab, a bispecific antibody recognizing coagulation factors IX and X: how does it actually compare to factor VIII?

Blood 2017 12 17;130(23):2463-2468. Epub 2017 Oct 17.

INSERM, Unité Mixte de Recherche S1176, Université Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, France.

During the last decade, the development of improved and novel approaches for the treatment of hemophilia A has expanded tremendously. These approaches include factor VIII (FVIII) with extended half-life (eg, FVIII-Fc and PEGylated FVIII), monoclonal antibodies targeting tissue factor pathway inhibitor, small interfering RNA to reduce antithrombin expression and the bispecific antibody ACE910/emicizumab. Emicizumab is a bispecific antibody recognizing both the enzyme factor IXa and the substrate factor X. Read More

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http://dx.doi.org/10.1182/blood-2017-08-801662DOI Listing
December 2017
49 Reads

Factor XIII deficiency diagnosis: Challenges and tools.

Int J Lab Hematol 2018 Feb 13;40(1):3-11. Epub 2017 Oct 13.

Indiana Hemophilia & Thrombosis Center, Indianapolis, IN, USA.

Factor XIII deficiency (FXIIID) is a rare hereditary bleeding disorder arising from heterogeneous mutations, which can lead to life-threatening hemorrhage. The diagnosis of FXIIID is challenging due to normal standard coagulation assays requiring specific FXIII assays for diagnosis, which is especially difficult in developing countries. This report presents an overview of FXIIID diagnosis and laboratory methods and suggests an algorithm to improve diagnostic efficiency and prevent missed or delayed FXIIID diagnosis. Read More

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http://dx.doi.org/10.1111/ijlh.12756DOI Listing
February 2018
12 Reads

Perioperative Use of Coagulation Factor Concentrates in Patients Undergoing Cardiac Surgery.

J Cardiothorac Vasc Anesth 2017 Oct 10;31(5):1810-1819. Epub 2017 May 10.

Department of Anesthesiology and Perioperative Medicine, Mayo Clinic College of Medicine and Science, Rochester, MN.

Coagulopathy and bleeding are common in patients undergoing cardiac surgery, with a perioperative transfusion rate in excess of 50%. The mechanism of coagulopathy associated with cardiac surgery using cardiopulmonary bypass is multifactorial. Historically, coagulation factor-mediated bleeding in such instances has been treated with allogeneic plasma transfusion. Read More

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http://dx.doi.org/10.1053/j.jvca.2017.05.017DOI Listing
October 2017
9 Reads

Perioperative management of haemophilia B: A critical appraisal of the evidence and current practices.

Haemophilia 2017 Nov 27;23(6):821-831. Epub 2017 Jul 27.

Oxford University Hospitals NHS Trust, Oxford Haemophilia Centre, Oxford, UK.

Background: While there is substantial literature addressing the principles of general management of haemophilia, literature on perioperative management of haemostasis is scarce.

Objective: The aim of this study was to better understand perioperative management among congenital haemophilia B patients (without inhibitors) and to gain insights into real-world surgical practices.

Method: A systematic literature review, with an emphasis on haemophilia B, was conducted using EMBASE , Medline and the Cochrane Library. Read More

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http://dx.doi.org/10.1111/hae.13279DOI Listing
November 2017
8 Reads

[Activated Factor VII - 31 years experience on clinical grounds].

Authors:
Miklós Udvardy

Orv Hetil 2017 Jun;158(24):923-928

Belgyógyászat Intézet, Hematológia Tanszék, Debreceni Egyetem, Általános Orvostudományi Kar Debrecen, Nagyerdei krt. 98., 4032.

The author provides an overview of the use of recombinant activated FVII (rFVIIa, Novoseven), which is used over 30 years, based upon international publications and also on some modest own experience. Standard, approved indications (inhibitory cases, Glanzmann thrombasthenia, prophylaxis experience) are in the focus of this paper, emphasizing the specially rapid and efficacious way of Novoseven therapy, drawing attention to excellent safety issues regarding very low immunogenicity along with low number of thrombogenic complications. A careful, cautious and critical evaluation of Novoseven therapy is also provided in rather special forms of critical bleeding conditions considering international recommendations and institutional registry data. Read More

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http://dx.doi.org/10.1556/650.2017.30758DOI Listing
June 2017
15 Reads

Haemophilia care in Europe - A survey of 37 countries.

Haemophilia 2017 Jul 2;23(4):e259-e266. Epub 2017 Jun 2.

European Haemophilia Consortium, Brussels, Belgium.

Introduction: The European Haemophilia Consortium (EHC) is an international non-profit organization representing 45 national patients' organizations in Europe. Every 3 years, the EHC circulates a survey to its national member organizations to assess the state of haemophilia care.

Aim: The purpose of this exercise is to ascertain information about the organization of haemophilia care and treatment availability at national levels. Read More

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http://dx.doi.org/10.1111/hae.13263DOI Listing
July 2017
2 Reads

Platelets and hemophilia: A review of the literature.

Thromb Res 2017 Jul 13;155:131-139. Epub 2017 May 13.

Clinical Division of Hematology and Hemostaseology, Department of Medicine I, Medical University of Vienna, Austria. Electronic address:

Hemophilia A and B are inherited bleeding disorders due to deficiencies of the clotting factors VIII and IX, respectively. The severity of the disease correlates with remaining factor levels, although individual differences in bleeding tendency are seen despite similar factor levels. While thrombin generation is severely impaired in persons with hemophilia, primary hemostasis, i. Read More

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http://dx.doi.org/10.1016/j.thromres.2017.05.013DOI Listing
July 2017
29 Reads

Biological considerations of plasma-derived and recombinant factor VIII immunogenicity.

Blood 2017 06 21;129(24):3147-3154. Epub 2017 Apr 21.

Department of Pathology and Molecular Medicine, Queen's University, Kingston, ON, Canada.

In hemophilia A, the most severe complication of factor VIII (FVIII) replacement therapy involves the formation of FVIII neutralizing antibodies, also known as inhibitors, in 25% to 30% of patients. This adverse event is associated with a significant increase in morbidity and economic burden, thus highlighting the need to identify methods to limit FVIII immunogenicity. Inhibitor development is regulated by a complex balance of genetic factors, such as FVIII genotype, and environmental variables, such as coexistent inflammation. Read More

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http://dx.doi.org/10.1182/blood-2016-11-750885DOI Listing
June 2017
6 Reads

Gene Therapy for Hemophilia.

Mol Ther 2017 05 11;25(5):1163-1167. Epub 2017 Apr 11.

Department of Surgery, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.

The X-linked bleeding disorder hemophilia causes frequent and exaggerated bleeding that can be life-threatening if untreated. Conventional therapy requires frequent intravenous infusions of the missing coagulation protein (factor VIII [FVIII] for hemophilia A and factor IX [FIX] for hemophilia B). However, a lasting cure through gene therapy has long been sought. Read More

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http://dx.doi.org/10.1016/j.ymthe.2017.03.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417837PMC
May 2017
8 Reads

Psychosocial care for children with haemophilia and their parents in the Netherlands.

Haemophilia 2017 May 21;23(3):362-369. Epub 2017 Mar 21.

Psychosocial Department, Emma Children's Hospital, Academic Medical Centre (AMC), Amsterdam, The Netherlands.

Introduction: Children growing up with haemophilia are at greater risk for psychosocial problems than their healthy peers. Providing psychosocial care to children with haemophilia and their families is indispensable, since psychosocial factors can have a significant impact on health and health-related quality of life (HRQOL).

Aims: Our aim was to give a description of psychosocial care provided by the multidisciplinary team of the Hemophilia Comprehensive Care Centre (HCCC) at the Emma Children's Hospital in Amsterdam, the Netherlands. Read More

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http://doi.wiley.com/10.1111/hae.13186
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http://dx.doi.org/10.1111/hae.13186DOI Listing
May 2017
3 Reads

Production of recombinant coagulation factors: Are humans the best host cells?

Bioengineered 2017 Sep 23;8(5):462-470. Epub 2017 Feb 23.

b Center for Cell-based Therapy , Regional Blood Center of Ribeirão Preto, University of São Paulo, Ribeirão Preto-SP , Brazil.

The main treatment option for Hemophilia A/B patients involves the administration of recombinant coagulation factors on-demand or in a prophylactic approach. Despite the safety and efficacy of this replacement therapy, the development of antibodies against the coagulation factor infused, which neutralize the procoagulant activity, is a severe complication. The production of recombinant coagulation factors in human cell lines is an efficient approach to avoid such complication. Read More

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http://dx.doi.org/10.1080/21655979.2017.1279767DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5639856PMC
September 2017
8 Reads

Genome editing for inborn errors of metabolism: advancing towards the clinic.

BMC Med 2017 02 27;15(1):43. Epub 2017 Feb 27.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 10, Room, 7N248A, Bethesda, MD, USA.

Inborn errors of metabolism (IEM) include many disorders for which current treatments aim to ameliorate disease manifestations, but are not curative. Advances in the field of genome editing have recently resulted in the in vivo correction of murine models of IEM. Site-specific endonucleases, such as zinc-finger nucleases and the CRISPR/Cas9 system, in combination with delivery vectors engineered to target disease tissue, have enabled correction of mutations in disease models of hemophilia B, hereditary tyrosinemia type I, ornithine transcarbamylase deficiency, and lysosomal storage disorders. Read More

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http://dx.doi.org/10.1186/s12916-017-0798-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5327528PMC
February 2017
7 Reads

The current state of adverse event reporting in hemophilia.

Expert Rev Hematol 2017 Feb 26;10(2):161-168. Epub 2016 Dec 26.

a Sheffield Haemophilia and Thrombosis Centre, Royal Hallamshire Hospital , Sheffield , UK.

Introduction: Replacement of the missing clotting factor is the mainstay of hemophilia treatment. Whilst historically many hemophilia patients were infected with blood-borne viruses transmitted via plasma-derived products, nowadays the formation of alloantibodies against the missing clotting factor is the main adverse event of treatment. Areas covered: This paper provides an overview of the current national and international adverse event reporting systems, what these surveillance schemes taught us about side effects of the products presently in use, and elaborates on how to adapt these systems to the challenges we face with the changing treatment landscape. Read More

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http://dx.doi.org/10.1080/17474086.2017.1272410DOI Listing
February 2017
8 Reads

Management of cardiovascular disease in aging persons with haemophilia.

Hamostaseologie 2017 Aug 14;37(3):196-201. Epub 2016 Dec 14.

Roger E. G. Schutgens, MD, PhD, MSc, Van Creveldkliniek, UMC Utrecht, Heidelberglaan 100 3584CX Utrecht, The Netherlands, Tel: +31 88 7558450,

With the aging of the haemophilia population, age related comorbidities become more and more a medical issue. Managing haemophilia patients with cardiovascular disease is a difficult task for many haemophilia-treating physicians. Over the years, insights on prevalence, risk factors and management of cardiovascular disease in haemophilia have improved substantially. Read More

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http://dx.doi.org/10.5482/HAMO-16-09-0037DOI Listing
August 2017
7 Reads

Pathophysiology of hemophilic arthropathy and potential targets for therapy.

Pharmacol Res 2017 01 24;115:192-199. Epub 2016 Nov 24.

Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands; Van Creveldkliniek, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands.

Hemophilia is a congenital clotting factor deficiency characterized by spontaneous and trauma-related bleeding. Spontaneous bleeding shows a predilection for joints, and repeated hemarthroses lead to a disabling condition called hemophilic arthropathy. Treatment of this condition consists of preventing joint bleeding on the one hand and orthopedic surgery as a last resort on the other. Read More

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http://dx.doi.org/10.1016/j.phrs.2016.11.032DOI Listing
January 2017
13 Reads

Baby hamster kidney cell-derived recombinant factor VIII: a quarter century of learning and clinical experience.

Expert Rev Hematol 2016 Dec 28;9(12):1151-1164. Epub 2016 Nov 28.

e Department of Medicine and Pathology , Georgetown University Medical Center , Washington , DC , USA.

Introduction: Management and care of individuals with hemophilia A advanced immensely with the introduction of recombinant factor VIII (rFVIII) replacement products. This review provides a historical overview of rFVIII development with a focus on Bayer's rFVIII (with albumin) and sucrose-formulated rFVIII (rFVIII-FS), the only rFVIII products cloned in baby hamster kidney (BHK) cells with >25 years of proven safety and efficacy. Areas covered: We review the advances in rFVIII technology and the efficacy and safety data for BHK-derived rFVIII/rFVIII-FS from clinical trials, investigator-initiated studies, and observational studies. Read More

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http://dx.doi.org/10.1080/17474086.2017.1259559DOI Listing
December 2016
41 Reads

Prevention of inhibitor development in hemophilia A in 2016. A glimpse into the future?

Thromb Res 2016 Dec 27;148:96-100. Epub 2016 Oct 27.

Section of Clinical Biochemistry, University of Verona, Verona, Italy.

Thanks to considerable progresses made over the last 30years, hemophilia benefits from the most efficacious and safe treatment among the many monogenic inherited disorders. The most challenging complication of replacement therapy in hemophilia A is the occurrence of alloantibodies against infused factor VIII (FVIII), thus predisposing the patients to increased morbidity and disability. Extensive research in this field has definitively unraveled that development of inhibitors in hemophilia A is a complex and multifactorial process, in which inherited and environmental factors dynamically interact. Read More

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http://dx.doi.org/10.1016/j.thromres.2016.10.024DOI Listing
December 2016
28 Reads

European retrospective study of real-life haemophilia treatment.

Haemophilia 2017 Jan 20;23(1):105-114. Epub 2016 Oct 20.

Sobi, Stockholm, Sweden.

Introduction: Haemophilia treatment varies significantly between individuals, countries and regions and details of bleed rates, factor consumption and injection frequency are often not available.

Aim: To provide an overview of the FVIII/FIX treatment practice and outcome for patients with haemophilia A (HA) or haemophilia B (HB) across Europe.

Methods: Non-interventional, 12-month retrospective study where anonymized data were retrieved from haemophilia centres/registers in Belgium, France, Germany, Italy, Spain, Sweden and the United Kingdom. Read More

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http://dx.doi.org/10.1111/hae.13111DOI Listing
January 2017
10 Reads

Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.

J Obstet Gynaecol Can 2016 08;38(8):742-762.e3

Vancouver BC.

Objective: This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document.

Intended Users: All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7. Read More

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http://dx.doi.org/10.1016/j.jogc.2016.06.008DOI Listing
August 2016
51 Reads

Contemporary issues in the management of von Willebrand disease.

Thromb Haemost 2016 08 16;116 Suppl 1:S18-25. Epub 2016 Aug 16.

Augusto B. Federici, University of Milan - Hemophilia & Thrombosis Center, Via Pace 9, Milano 20122, Italy, Tel.: +39 0255035356, Fax: +39 0255035347, E-mail:

Von Willebrand disease (VWD) is the most common inherited bleeding disorder. Bleeding scores in VWD, focused in particular on mucosal bleeding, can be very useful in the diagnosis and validation of different types of treatment. The results of an extended prospective study with a large amount of information on clinical phenotype and implications in treatment are reviewed in this article. Read More

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http://dx.doi.org/10.1160/TH16-01-0050DOI Listing
August 2016
18 Reads

Integrated multidisciplinary care for the management of chronic conditions in adults: an overview of reviews and an example of using indirect evidence to inform clinical practice recommendations in the field of rare diseases.

Haemophilia 2016 Jul;22 Suppl 3:41-50

Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada.

Background: Integrated care models have been adopted for individuals with chronic conditions and for persons with rare diseases, such as haemophilia.

Objective: To summarize the evidence from reviews for the effects of integrated multidisciplinary care for chronic conditions in adults and to provide an example of using this evidence to make recommendations for haemophilia care.

Search Methods: We searched MEDLINE, EMBASE, CINAHL and Cochrane Database of Systematic Reviews up to January 2016, and reviewed reference lists of retrieved papers. Read More

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http://dx.doi.org/10.1111/hae.13010DOI Listing
July 2016
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Human plasma-derived FVIII/VWD concentrate (Biostate): a review of experimental and clinical pharmacokinetic, efficacy and safety data.

Drugs Context 2016 8;5:212292. Epub 2016 Apr 8.

Royal Prince Alfred Hospital, Missenden Road, Camperdown, NSW 2050, Australia.

Human plasma-derived factor VIII/von Willebrand factor complex concentrates are used to control bleeding in patients with von Willebrand disease (VWD) or haemophilia A (HA). The properties of these haemostatic factor concentrates vary widely, which can have significant clinical implications. This review provides an extensive overview of the molecular properties, in addition to pharmacokinetic, efficacy and safety data, and case studies of clinical experience of one such concentrate, Biostate. Read More

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http://www.drugsincontext.com/human-plasma-derived-fviiivwd-
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http://dx.doi.org/10.7573/dic.212292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831637PMC
April 2016
6 Reads

Promoting self-management and adherence during prophylaxis: evidence-based recommendations for haemophilia professionals.

Haemophilia 2016 Jul 14;22(4):499-506. Epub 2016 Apr 14.

Van Creveldkliniek, University Medical Center Utrecht, Utrecht, the Netherlands.

Introduction: Throughout life, a patient with severe haemophilia is confronted with many treatment-related challenges. Insight into self-management and non-adherence could improve the quality of care for these patients. The aim of this study was to provide an overview of the current evidence on self-management and adherence to prophylaxis in haemophilia. Read More

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http://doi.wiley.com/10.1111/hae.12904
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http://dx.doi.org/10.1111/hae.12904DOI Listing
July 2016
2 Reads

Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.

Thromb Haemost 2016 07 17;116(1):17-31. Epub 2016 Mar 17.

Teresa Fidalgo, Centro Hospitalar e Universitário de Coimbra (CHUC), Serviço de Hematologia Clínica, Unidade de Trombose e Hemostase, Av Afonso Romão Coimbra 3000-602, Portugal, Tel.: +351 239 480 370, Fax: +351 239 717 216, E-mail:

The diagnosis of von Willebrand disease (VWD), the most common inherited bleeding disorder, is characterised by a variable bleeding tendency and heterogeneous laboratory phenotype. The sequencing of the entire VWF coding region has not yet become a routine practice in diagnostic laboratories owing to its high costs. Nevertheless, next-generation sequencing (NGS) has emerged as an alternative to overcome this limitation. Read More

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http://dx.doi.org/10.1160/TH15-07-0604DOI Listing
July 2016
76 Reads
2 Citations
4.984 Impact Factor

Acquired haemophilia: an overview for clinical practice.

Eur J Haematol 2015 Dec;95 Suppl 81:36-44

Division of Hematology and Hemostasis, Department of Medicine 1, Medical University of Vienna, Vienna, Austria.

Acquired haemophilia is a potentially life-threatening bleeding disorder caused by the development of autoantibodies against coagulation factors, most commonly against factor (F) VIII (acquired haemophilia A; AHA). In around half of patients, an underlying disorder is associated with AHA; the remaining cases are idiopathic. Typically, the disorder presents with bleeding, ranging from mild to life- and limb-threatening, in patients with no personal or family bleeding history. Read More

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http://doi.wiley.com/10.1111/ejh.12689
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http://dx.doi.org/10.1111/ejh.12689DOI Listing
December 2015
5 Reads

Gynaecological and obstetrical bleeding in women with factor XI deficiency - a systematic review.

Haemophilia 2016 Mar 3;22(2):188-195. Epub 2015 Dec 3.

Division of Haemostasis and Thrombosis, Department of Haematology, University of Groningen University Medical Centre Groningen, Groningen, The Netherlands.

Introduction: Menstrual bleeding, pregnancy and delivery present an intrinsic haemostatic challenge to women with bleeding disorders such as factor XI (FXI) deficiency.

Aim: To provide a systematic overview of studies on gynaecological and obstetrical bleeding problems in women with FXI deficiency.

Methods: We searched MEDLINE, EMBASE and the Cochrane library for studies that present original data on the incidence of and treatment options for gynaecological and obstetrical bleeding in FXI-deficient women. Read More

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http://doi.wiley.com/10.1111/hae.12856
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http://dx.doi.org/10.1111/hae.12856DOI Listing
March 2016
13 Reads

Clinical overview of Fanhdi/Alphanate (plasma-derived, VWF-containing FVIII concentrate) in immune tolerance induction in haemophilia A patients with inhibitors.

Haemophilia 2016 Jan 27;22(1):e71-4. Epub 2015 Nov 27.

Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Cà Granda Foundation, Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1111/hae.12857DOI Listing
January 2016
2 Reads

Compartment syndrome in patients with haemophilia.

J Orthop 2015 Dec 29;12(4):237-41. Epub 2015 May 29.

Department of Orthopaedics, Royal Free Hospital, Pond St, London, UK.

Background: Acute compartment syndrome (ACS) is an uncommon but potentially devastating condition.

Methods And Results: There are scattered case reports and case series in the literature of ACS in persons with haemophilia (PWH), and even fewer in PWH and inhibitors. The management of compartment syndrome in these scenarios is controversial and often anecdotal. Read More

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http://dx.doi.org/10.1016/j.jor.2015.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601993PMC
December 2015
2 Reads

Progress and challenges in viral vector manufacturing.

Hum Mol Genet 2016 Apr 30;25(R1):R42-52. Epub 2015 Oct 30.

Spark Therapeutics, Inc., Philadelphia, PA, USA.

Promising results in several clinical studies have emphasized the potential of gene therapy to address important medical needs and initiated a surge of investments in drug development and commercialization. This enthusiasm is driven by positive data in clinical trials including gene replacement for Hemophilia B, X-linked Severe Combined Immunodeficiency, Leber's Congenital Amaurosis Type 2 and in cancer immunotherapy trials for hematological malignancies using chimeric antigen receptor T cells. These results build on the recent licensure of the European gene therapy product Glybera for the treatment of lipoprotein lipase deficiency. Read More

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http://hmg.oxfordjournals.org/content/early/2015/10/29/hmg.d
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http://hmg.oxfordjournals.org/content/early/2015/11/14/hmg.d
Web Search
http://hmg.oxfordjournals.org/content/early/2015/10/29/hmg.d
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http://www.hmg.oxfordjournals.org/lookup/doi/10.1093/hmg/ddv
Publisher Site
http://dx.doi.org/10.1093/hmg/ddv451DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4802372PMC
April 2016
19 Reads