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Genetic Clotting Problems


Molecular Genetics of Blood Clotting

Summary: David Ginsburg is interested in understanding the components of the blood-clotting system and how disturbances in their function lead to human bleeding and blood-clotting disorders.

Protein S deficiency in HIV associated ischaemic stroke: an epiphenomenon of HIV infection

Journal of Neurology, Neurosurgery, and Psychiatry 2005;76:1455-1456

Current approaches to the work-up of hypercoagulability:Prothrombin 20210

Information on Factor II G to A (guainine-to-adenine) gene mutation/genetic predispositions to thrombosis associated with mutation in the prothrombin gene.

Protein S Deficiency And Thrombophilia

Welcome to our web site. Protein S Deficiency (PSD) is a rare blood disorder that affects just a few thousand people worldwide. It is one of several known risk factors for thrombophilia and can increase the risk of blood clots such as Deep Vein Thrombosis (DVT) and Pulmonary Embolism (PE).

Factor X deficiency

Factor X deficiency is a disorder that causes abnormal blood clotting (coagulation), resulting from a shortage of a plasma protein called factor X.

Hereditary Blood Disorders, NCBDDD, CDC

Hereditary defects in one or more of the clotting factors can cause the formation of potentially dangerous blood clots (thrombosis). Approximately 5-8% of the U.S. population has one of these clotting disorders collectively called thrombophilia, a propensity for blood clotting in which a genetic defect can be identified that often results in thrombosis. More than 60,000 Americans die each year from venous thromboembolism; in addition, nearly half of patients with deep vein clots experience long-term health consequences that adversely affect their quality of life.

Strange inheritance patterns

Last Updated: 2/15/2004

Genetic Counseling for Hereditary Thrombophilia


Factor V Leiden and Pregnancy Issues Support Board

This list is for people who have Factor V Leiden or similar disorder (such as Inherited or Pregnancy Acquired Thrombophilia) and are trying to get pregnant, already are pregnant, or have been pregnant. Affected partners/family members are also welcome. Within this group, it is not uncommon to have experienced a pregnancy loss, so members are expected to be sensitive to the serious nature of this group. This is a list of support, discussion, and information-sharing. Any challenges or flames will not be tolerated. Please note that new members are automatically moderated to reduce list-spamming. This may cause initial posts to be temporarily delayed in getting sent to the list.

Rituxan for Treatment of Idopathic Factor VIII Inhibitors

June 2003 Power Point Presentation

Protein C Deficiency

Protein C deficiency is a genetic trait that predisposes one to the formation of venous clots. Protein C deficiency was first described in 1981.

Should one routinely screen for lipoprotein(a)?

JOSEPH P. FROLKIS, MD, PhD Sections of Preventive Cardiology and Preventive Medicine, Department of Preventive Cardiology and Rehabilitation, Cleveland Clinic

Excess Factor VIII: A Common Cause of Hypercoagulability

Abstract Background: Elevations of coagulation factor VIII have recently been described in significant numbers of patients with venous thromboembolism (VTE) previously thought to have had an "idiopathic" event. Three patients from a family practice are presented with recurrent VTE and increased factor VIII levels. Method: The case histories and results of laboratory tests were reviewed. Results: The 3 patients had no other clear coagulopathy. In 2 of the 3, the increase was confirmed with a second reading. Conclusions: Factor VIII assay should be considered in the work-up of idiopathic, recurrent VTE. Long-term anticoagulation may be appropriate in this setting.

Factor V Q506 Mutation (Activated Protein C Resistance) Associated With Reduced Intrapartum Blood Loss - A Possible Evolutionary Selection Mechanism


Homocysteine and MTHFR Mutations: Relation to Thrombosis and Coronary Artery Disease

(Circulation. 2005;111:e289-e293.) © 2005 American Heart Association, Inc. Elizabeth A. Varga, MS; Amy C. Sturm, MS; Caron P. Misita, PharmD; Stephan Moll, MD

Factor V deficiency

Factor V deficiency is an inherited abnormal blood coagulation disorder caused by a deficiency of the plasma protein Factor V.

Protein S deficiency

Haematologica, Vol 93, Issue 4, 498-501 doi:10.3324/haematol.12691. Copyright © 2008 by Ferrata Storti Foundation.

Factor VII deficiency

Factor VII deficiency is an inherited disorder that causes abnormal blood clotting (coagulation), resulting from a deficiency of the plasma protein factor VII.

Activated protein C resistance

This page was last modified 13:18, 16 August 2006.

FDA Approves First Biologic to Treat Rare Clotting Disorder

The U.S. Food and Drug Administration (FDA) today licensed Ceprotin, the first biologic treatment for patients with a rare genetic defect that can cause a potentially life-threatening clotting disorder. Ceprotin is made from the plasma of healthy human blood donors. It is a concentrated form of Protein C, a substance normally manufactured in the liver that circulates in the plasma in very small amounts. Protein C plays an important role in controlling blood coagulation by preventing the formation and growth of blood clots.

Factor V Leiden and Antiphospholipid Antibodies Are Significant Risk Factors for Ischemic Stroke in Children

(Stroke. 2000;31:1283.) © 2000 American Heart Association, Inc.

Homocyst(e)ine, Diet, and Cardiovascular Diseases - AHA Science Advisory

(Circulation. 1999;99:178-182.) © 1999 American Heart Association, Inc.

Congenital antithrombin III deficiency

Update Date: 10/28/2003 Updated by: Ezra E. W. Cohen, M.D., Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, IL. Review provided by VeriMed Healthcare Network.

Factor V Leiden

Factor V Leiden (sometimes Factor VLeiden) is a hypercoagulability disorder in which Factor V, one of the coagulation factors, cannot be deactivated. Factor V Leiden is the most common hereditary hypercoagulability clotting disorder amongst Eurasians, possibly affecting up to 5% of the population of the U.S. It is named after the city Leiden (The Netherlands), where it was first identified in 1994 by Prof R. Bertina et al.

The Genetics of FVL, by Jennifer Rosenberg

Contributions in design from Jennifer Rosenberg.


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