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

McColl, M.D., Tait, R.C. , Walker, I.D., Perry, D.J., McCall, F. and Conkie, J.A. (1996) 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 and Fibrinolysis, 7(7), pp. 689-694. (doi: 10.1097/00001721-199610000-00005) (PMID:8958391)

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 VLeiden 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 VLeiden 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 VLeiden 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 development of thrombosis.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Walker, Prof Isobel and Tait, Dr Robert and McColl, Dr Mark
• Authors: McColl, M.D., Tait, R.C., Walker, I.D., Perry, D.J., McCall, F., and Conkie, J.A.
• College/School: College of Medical Veterinary and Life Sciences > School of Cardiovascular & Metabolic Health; College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
• Journal Name: Blood Coagulation and Fibrinolysis
• Publisher: Lippincott, Williams & Wilkins
• ISSN: 0957-5235
• ISSN (Online): 1473-5733