Low thrombosis rate seen in blood donors and their relatives with inherited deficiencies of antithrombin and protein C: correlation with type of defect, family history, and absence of the factor V Leiden mutation

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis
M McCollJ A Conkie

Abstract

We have previously identified a group of blood donors with inherited deficiencies of either antithrombin (AT) or protein C who appear to have a relatively low thrombosis rate. In the 5 years that have elapsed since initial identification of these individuals, resistance to activated protein C (APC resistance), which is associated with the factor V Leiden gene mutation, has emerged as an important and highly prevalent inherited thrombophilic risk factor. We have followed 28 donors/relatives with deficiency of AT (median age 48 years, range 16-77) and 23 with deficiency of protein C (median age 44 years, range 15-79) over a period of 5 years. During the study period only one individual, who was previously symptomatic, has suffered a thrombotic event which occurred spontaneously whilst on warfarin. We have now excluded coinheritance of APC resistance due to the factor V Leiden mutation in our cohort. Our findings demonstrate that individuals with single inherited thrombophilic defects are not uncommon and are frequently asymptomatic. The absence of the factor V Leiden mutation may in part explain the low thrombosis rate observed, and lends support to the hypothesis that multiple thrombophilic defects may be necessary for the devel...Continue Reading

Citations

Apr 25, 2012·Journal of Thrombosis and Thrombolysis·Huacheng HouQing Jiang
Nov 17, 1998·American Journal of Respiratory and Critical Care Medicine·S MurinR A Matthay
Oct 6, 2000·The Journal of Clinical Investigation·K IshiguroH Saito
Nov 11, 2010·Clinical Chemistry and Laboratory Medicine : CCLM·László MuszbekIstván Komáromi
Aug 24, 2007·Expert Opinion on Pharmacotherapy·Leo R Zacharski, Cocav A Engman
Mar 8, 2005·Journal of Thrombosis and Haemostasis : JTH·L R Zacharski
Jul 28, 2009·Journal of Thrombosis and Haemostasis : JTH·F R Rosendaal, P H Reitsma
Aug 1, 2007·Journal of Thrombosis and Haemostasis : JTH·F R RosendaalC J M Doggen
Jan 15, 2009·Haemophilia : the Official Journal of the World Federation of Hemophilia·M M Patnaik, S Moll
May 20, 1999·Baillière's Clinical Haematology·G F Pineo, R D Hull
Jul 31, 1998·American Journal of Human Genetics·S J HasstedtG L Long
Aug 24, 1999·British Journal of Obstetrics and Gynaecology·M D McCollI A Greer
Nov 24, 2005·Hematology·Frits R Rosendaal
Nov 8, 2002·Archives of Pathology & Laboratory Medicine·Andrew J GoodwinEdwin G Bovill

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