Factor X Deficiency in the Neonatal Period
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The Rare Coagulation Disorders
Treatment OF HEMOPHILIA April 2006 · No. 39 THE RARE COAGULATION DISORDERS Paula HB Bolton-Maggs Department of Haematology Manchester Royal Infirmary Manchester, United Kingdom Published by the World Federation of Hemophilia (WFH) © World Federation of Hemophilia, 2006 The WFH encourages redistribution of its publications for educational purposes by not-for-profit hemophilia organizations. In order to obtain permission to reprint, redistribute, or translate this publication, please contact the Communications Department at the address below. This publication is accessible from the World Federation of Hemophilia’s web site at www.wfh.org. Additional copies are also available from the WFH at: World Federation of Hemophilia 1425 René Lévesque Boulevard West, Suite 1010 Montréal, Québec H3G 1T7 CANADA Tel. : (514) 875-7944 Fax : (514) 875-8916 E-mail: [email protected] Internet: www.wfh.org The Treatment of Hemophilia series is intended to provide general information on the treatment and management of hemophilia. The World Federation of Hemophilia does not engage in the practice of medicine and under no circumstances recommends particular treatment for specific individuals. Dose schedules and other treatment regimes are continually revised and new side effects recognized. WFH makes no representation, express or implied, that drug doses or other treatment recommendations in this publication are correct. For these reasons it is strongly recommended that individuals seek the advice of a medical adviser and/or to consult printed instructions provided by the pharmaceutical company before administering any of the drugs referred to in this monograph. Statements and opinions expressed here do not necessarily represent the opinions, policies, or recommendations of the World Federation of Hemophilia, its Executive Committee, or its staff. -
Coagadex, Human Coagulation Factor X
26 July 2018 EMA/CHMP/455550/2018 Committee for Medicinal Products for Human Use (CHMP) CHMP extension of indication variation assessment report Coagadex International non-proprietary name: human coagulation factor X Procedure No. EMEA/H/C/003855/II/0007 Note Assessment report as adopted by the CHMP with all information of a commercially confidential nature deleted. 30 Churchill Place ● Canary Wharf ● London E14 5EU ● United Kingdom Telephone +44 (0)20 3660 6000 Facsimile +44 (0)20 3660 5555 Send a question via our website www.ema.europa.eu/contact An agency of the European Union © European Medicines Agency, 2018. Reproduction is authorised provided the source is acknowledged. Table of contents 1. Background information on the procedure .............................................. 5 1.1. Type II variation .................................................................................................. 5 1.2. Steps taken for the assessment of the product ......................................................... 6 2. Scientific discussion ................................................................................ 6 2.1. Introduction......................................................................................................... 6 2.2. Non-clinical aspects .............................................................................................. 7 2.3. Clinical aspects .................................................................................................... 7 2.3.1. Introduction ..................................................................................................... -
Factor X Deficiency
FACTSHEET Factor X deficiency This factsheet is about a bleeding disorder If you carry one copy of the gene fault for that is related to problems with a blood factor X deficiency, you are known as a clotting factor called factor X (pronounced carrier. You can only pass the condition on to factor 10). It is written to go with our Rare your children if your partner also carries the bleeding disorders booklet, where you will gene fault. You will not have the condition find much more information on living with yourself, but any children that inherit the one of these conditions. gene fault from you will also be carriers of the condition. What is factor X deficiency? It is also possible to develop a factor X Factor X deficiency is a bleeding disorder deficiency later in life. This is called acquired caused by the body producing less of the factor X deficiency. Acquired factor X clotting factor than it should. This causes deficiency is not inherited and occurs in problems because the clotting reaction individuals with no family history of the that would normally control any bleeding disorder. This is rare, but may be caused is blocked too early. So, your body doesn’t by other diseases, including severe liver make the blood clots it needs to stop disease, amyloidosis, cancer and infections. bleeding. Factor X needs vitamin K from the liver to be activated. Symptoms of factor X deficiency Factor X deficiency is rare. Doctors estimate Symptoms of factor X deficiency can be that it affects about one in a million people. -
Factor X Deficiency
Factor X deficiency Description Factor X deficiency is a rare bleeding disorder that varies in severity among affected individuals. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor X deficiency commonly causes nosebleeds, easy bruising, bleeding under the skin, bleeding of the gums, blood in the urine (hematuria), and prolonged or excessive bleeding following surgery or trauma. Women with factor X deficiency can have heavy or prolonged menstrual bleeding ( menorrhagia) or excessive bleeding in childbirth, and may be at increased risk of pregnancy loss (miscarriage). Bleeding into joint spaces (hemarthrosis) occasionally occurs. Severely affected individuals have an increased risk of bleeding inside the skull ( intracranial hemorrhage), in the lungs (pulmonary hemorrhage), or in the gastrointestinal tract, which can be life-threatening. Frequency Factor X deficiency occurs in approximately 1 per million individuals worldwide. Causes The inherited form of factor X deficiency, known as congenital factor X deficiency, is caused by mutations in the F10 gene, which provides instructions for making a protein called coagulation factor X. This protein plays a critical role in the coagulation system, which is a series of chemical reactions that forms blood clots in response to injury. Some F10 gene mutations that cause factor X deficiency reduce the amount of coagulation factor X in the bloodstream, resulting in a form of the disorder called type I. Other F10 gene mutations result in the production of a coagulation factor X protein with impaired function, leading to type II factor X deficiency. Reduced quantity or function of coagulation factor X prevents blood from clotting normally, causing episodes of abnormal bleeding that can be severe. -
Dental Management of a Patient with Factor X Deficiency
Clinical P RACTIC E Dental Management of a Patient with Factor X Deficiency Contact Author Abi Adewumi, BDS, FDSRCS (Eng), MPedDent RCS (Eng); Vishwas Sakhalkar, MD Dr. Adewumi Email: aadewumi@ dental.ufl.edu ABSTRACT Factor X deficiency (also known as Stuart-Prower factor deficiency) is an extremely rare hereditary hematologic disorder, affecting 1 person in 2 million. The gene causing this condition is autosomal recessive; thus, only those inheriting from both parents exhibit clinical symptoms, such as moderate bleeding, easy bruising and subcutaneous bleeding from mucous membranes. Patients with marked deficiency may have severe post- traumatic or spontaneous internal or external bleeding, leading to such complications as hemarthrosis or hemorrhagic strokes. This case report describes the dental manage- ment of a patient with severe factor X deficiency whose development was delayed due to multiple episodes of intracranial hemorrhage in early childhood. It also highlights the importance of timely interdisciplinary communication and consultation to promote a successful outcome. For citation purposes, the electronic version is the definitive version of this article: www.cda-adc.ca/jcda/vol-75/issue-6/461.html actor X deficiency is a coagulation dis- Case Report order reported in the mid-1950s by work- A 17-year-old presented to the pediatric Fers who were studying patients with a dental department of the University of Florida hemorrhagic disease resembling factor VII with the chief complaint of toothache. His deficiency. It was named after the first male medical history indicated severe factor X de- and female patients (Stuart and Prower) in ficiency, intracranial bleeding episodes and whom it was recognized. -
Coagulation Simplified…
Coagulation Simplified… Published by ACKNOWLEDGEMENTS CONTENTS We gratefully acknowledge the support and funding provided by the Ontario Ministry of Health 1. The Basics of Coagulation and Clot Breakdown . 4–7 and Long-Term Care. 2. Routine Coagulation Tests . 8–17 Special thanks to the following people and organizations who provided their expertise in Evaluating coagulation in the laboratory . 8 reviewing the content of this handbook: Sample collection for coagulation testing . 9 Prothrombin Time (PT) . 10 L Gini Bourner (QMP-LS Hematology Committee) International Normalized Ratio (INR) . 11 L Dr. Jeannie Callum Activated Partial Thromboplastin Time (APTT) . 12 L Dr. Allison Collins Thrombin Time (TT) . 13 Fibrinogen . 14 L Dr. William Geerts D-dimer . 15 L Dr. Alejandro Lazo-Langner Anti-Xa assay . 16 L Dr. Ruth Padmore (QMP-LS Hematology Committee) Summary . 17 L Anne Raby (QMP-LS Hematology Committee) 3. Anticoagulant Drugs . 18–25 L Dr. Margaret Rand Unfractionated Hepari n (UFH) . 18 L Dr. Alan Tinmouth Low Molecular Weight Heparins (LMWHs) . 19 Fondaparinux . 20 Warfarin . 21 Thanks also to: Direct Thrombin Inhibitors (DTI) . 23 L Dale Roddick, photographer, Sunnybrook Health Sciences Centre Direct Xa Inhibitors . 25 L Reena Manohar, graphic artist, Sunnybrook Health Sciences Centre 4. Evaluating Abnormal Coagulation Tests . 26–29 L The ECAT Foundation Prolonged PT / INR with normal APTT . 26 CLOT-ED Images used or modified with permission from Prolonged APTT with normal PT / INR . 27 the ECAT Foundation, The Netherlands. Prolonged APTT and PT / INR . 28 Prolonged Thrombin Time (TT) with normal or prolonged APTT and PT / INR . 29 March 2013 5. Approach to the Evaluation of the Bleeding Patient . -
The Laboratory Approach to Inherited and Acquired Coagulation Factor Deficiencies 1078 Requires Active Use of Clinical Information
View metadata, citation and similar papersARTICLE at core.ac.uk IN PRESS brought to you by CORE provided by ZENODO 1 2 The Laboratory 3 4 Approach to Inherited 5 6 and Acquired 7 8 Coagulation Factor 9 10 Deficiencies 11 12 a,c a b 13 Ben L.Wagenman , Kelly T.Townsend ,PrasadMathew , Kendall P. Crookstona,c,* 14 KEYWORDS 15 Hemophilia Coagulation factor deficiency 16 Hypoprothrombinemia Hemostasis Prothrombin time 17 Activated partial thromboplastin time Pre-analytical variables 18 Bleeding Coagulation factor inhibitors 19 20 21 Coagulation factors are usually either enzymes (eg, F9, F2) or cofactors (eg, F5, F8) 22 that circulate at varying concentrations in the blood. Rather than reporting the abso- 23 lute concentration of the circulating factors (as is done with most chemistry analytes), 24 the clinical laboratory reports activities for most coagulation factors (ie, the functional 25 activity of the factor in the patient’s plasma compared with that of calibrator or a stan- 26 dard plasma, the latter with a defined assayed activity of 100%). 27 Factor deficiencies traditionally are classified as type 1 or type 2. In type 1 defi- 28 ciency, the protein structure of the factor is normal, but there is a decreased concen- 29 tration in the circulation, so the activity level is decreased. This can be caused by 30 increased clearance or decreased production of the factor. Essentially all acquired 31 and many inherited disorders fall into this category. In type 2 deficiencies, there is 32 a normal or nearly normal concentration of a circulating protein that is intrinsically 33 defective and therefore also demonstrates a lower overall activity level. -
Mediated Acquired Factor X Deficiency in a Patient with Marginal
CASE REPORT Successful treatment of a noninhibitory antibody-mediated acquired factor X deficiency in a patient with marginal-zone lymphoma Annemarie Meenhuis1,*, Rianne van Vliet2,*, Francisca Hudig1, Paula F. Ypma2, Martin R. Schipperus2 & Martine J. Hollestelle3 1LabWest/ Haga Teaching Hospital, The Hague, The Netherlands 2Department of Haematology, Haga Teaching Hospital, The Hague, The Netherlands 3Department of Immunopathology and Blood Coagulation, Sanquin Diagnostic Services, Amsterdam, The Netherlands Correspondence Key Clinical Message Annemarie Meenhuis, LabWest/ Haga Teaching Hospital, Leyweg 275, 2545 CH Prolonged clotting times were observed in a patient with spontaneous The Hague, The Netherlands. hemorrhage. Analysis showed severe factor X deficiency due to clearance by a Tel: +31610393398; noninhibitory antibody. Lymphadenopathy identified on imaging led to diagno- Fax: +31702102191; sis of marginal B-cell lymphoma. Treatment of lymphoma with rituximab and E-mail: [email protected] chlorambucil resulted in complete disappearance of the bleeding disorder. Funding Information No sources of funding were declared for this Keywords study. acquired coagulation disorders, clotting factor related research, non-Hodgkin Received: 30 December 2014; Revised: 3 lymphoma. April 2015; Accepted: 16 April 2015 Clinical Case Reports 2015; 3(7): 587–593 doi: 10.1002/ccr3.294 *AM and RvV contributed equally to this work. Introduction due to factor X’s essential role in the hemostasis [4, 5]. Symptoms vary from mild hemorrhage, such as bruising Factor X, also known as Stuart-Prower factor, is a vitamin and mucocutaneous bleeding, to more severe bleeding, for K-dependent serine protease produced in the liver. It is a example, gastrointestinal bleeding and muscle bleeding. key component of both intrinsic and extrinsic clotting Bleeding severity depends on the plasma concentration of pathways. -
Factor X Deficiency
Factor X deficiency Information for families Great Ormond Street Hospital for Children NHS Foundation Trust 1 Factor X (previously known as the Stuart-Prower factor) deficiency is a type of clotting disorder. A specific protein is missing from the blood so that injured blood vessels cannot heal in the usual way. This information sheet from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatment of Factor X deficiency and where to get help. What is a clotting disorder? A clotting (or coagulation) disorder is a There are a number of coagulation factors medical condition where a specific protein circulating in the blood, lying in wait to be is missing from the blood. turned on when an injury occurs. If any one Blood is made up of different types of of the factors is missing from the body, the cells (red blood cells, white blood cells and complicated chemical reaction described platelets) all suspended in a straw-coloured above will not happen as it should. This can liquid called plasma. Platelets are the cells lead to blood loss, which can be severe and responsible for making blood clot. When life-threatening. Each coagulation factor a blood vessel is injured, platelets clump is given a number from I to XIII – they are together to block the injury site. They also always written as Roman numerals – and start off a complicated chemical reaction the effects of the missing factor will vary. to form a mesh made of a substance called fibrin. This complicated chemical reaction always follows a strict pattern – with each clotting protein (known as a coagulation factor) turned on in order. -
Bleeding Thrombotic and Platelet Disorder TIER1 Genes (V.ISTH 2019.1)
Bleeding Thrombotic and Platelet Disorder TIER1 genes (v.ISTH_2019.1) Gene Category Associated disorder(s) Inheritance Transcript Location symbol Bleeding/coagulation F10 Factor X deficiency AR; AD NM_000504.3 13q34 Bleeding/coagulation F11 Factor XI deficiency AR; AD NM_000128.3 4q35.2 Coagulation Factor XII deficiency AR (coagulation) F12 NM_000505.3 5q35.3 Angioedema Angioedema AD (angioedema) Bleeding/coagulation F13A1 Factor XIII deficiency AR NM_000129.3 6p25.1 Bleeding/coagulation F13B Factor XIII deficiency AR NM_001994.2 1q31.3 Bleeding/coagulation ProthroMbin deficiency AR (bleeding/coagulation) Thrombosis F2 Thrombophilia due to AD (thrombosis) NM_000506.4 11p11.2 thrombin defect Bleeding/coagulation Factor V deficiency AR (bleeding/coagulation) Thrombosis F5 Thrombophilia due to AD (thrombosis) NM_000130.4 1q24.2 activated protein C resistance Bleeding/coagulation F7 Factor VII deficiency AR; AD NM_000131.4 13q34 Bleeding/coagulation F8 HaeMophilia A XLR NM_000132.3 Xq28 Bleeding/coagulation F9 HaeMophilia B XLR NM_000133.3 Xq27.1 AR (afibrinogeneMia); Bleeding FGA Fibrinogen deficiency AD NM_000508.3 4q31.3 (hypo/dysfibrinogeneMia) AR (afibrinogeneMia); Bleeding FGB Fibrinogen deficiency AD NM_005141.4 4q31.3 (hypo/dysfibrinogeneMia) AR (afibrinogeneMia); Bleeding FGG Fibrinogen deficiency AD NM_021870.2 4q32.1 (hypo/dysfibrinogeneMia) VitaMin K-dependent clotting Bleeding/coagulation GGCX AR NM_000821.6 2p11.2 factors deficiency 1 Coagulation KNG1 Kininogen Deficiency AR NM_000893.4 3q27.3 CoMbined factor V and VIII Bleeding/coagulation -
Clinical Commissioning Policy: Human Coagulation Factor X for Hereditary Factor X Deficiency (All Ages)
Clinical Commissioning Policy: Human coagulation factor X for hereditary factor X deficiency (all ages) NHS England Reference: 200208P Standard Operating Procedure: Clinical Commissioning Policy: Human coagulation factor X for hereditary factor X deficiency (all ages) First published: February 2020 Prepared by National Institute for Health and Care Excellence (NICE) Commissioning Support Programme Published by NHS England, in electronic format only. Contents Policy Statement ..................................................................................................... 4 Equality Statement .................................................................................................. 4 Plain Language Summary ...................................................................................... 5 1 Introduction ......................................................................................................... 7 2 Definitions ........................................................................................................... 8 3 Aims and Objectives ........................................................................................... 9 4 Epidemiology and Needs Assessment ................................................................ 9 5 Evidence Base .................................................................................................. 11 6 Criteria for Commissioning ................................................................................ 15 7 Patient Pathway ............................................................................................... -
Hemophilia and Rare Bleeding Disorders
Introduction Clotting factor disorders Platelet disorders Glossary Resources and support NIKI Niki has congenital factor VII deficiency YOUR GUIDE TO hemophilia and rare bleeding disorders Introduction Clotting factor disorders Platelet disorders Glossary Resources and support introduction Information about rare bleeding disorders is often hard to find. You may find yourself spending time looking through many resources to get what you need. This guide aims to provide help in your search for information. Here, you can get an overview of rare bleeding disorders all in one place. You will learn about why these disorders occur and how they affect bleeding in the body. You will also learn about available resources and support that can help you start a plan of action. Just because a disorder is rare does not mean it cannot be managed. It just means it is uncommon. That’s why this guide also offers ways to connect you with people and resources that can help you manage a bleeding disorder. After all, just because you are unique doesn’t mean you are alone. Words in bold can be found in the Glossary section. If you have one of the disorders in this guide, talk with your doctor. He or she can tell you about treatment options that are available for you. Introduction Clotting factor disorders Platelet disorders Glossary Resources and support Q. How does my body normally stop bleeding? Your body takes a series of complex steps to stop bleeding. It begins with small blood vessels called capillaries. When you are injured, such as from a cut or bruise, these capillaries break and you begin to bleed.