Prevalence of antithrombin deficiency in the healthy population

Tait, R.C. , Walker, I. D., Perry, D.J., Islam, S.I.A.M., Daly, M.E., McCall, F., Conkie, J.A. and Carrell, R.W.> (1994) Prevalence of antithrombin deficiency in the healthy population. British Journal of Haematology, 87(1), pp. 106-112. (doi: 10.1111/j.1365-2141.1994.tb04878.x) (PMID:7947234)

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Abstract

In a cohort of 9669 blood donors we have identified 16 cases of congenital AT deficiency (1 in 600) by way of family studies and AT gene analysis. Two donors had type I AT deficiency (prevalence 0.21 per 1000; 95% CI = 0.03/1000 to 0.75/1000), their families displaying a symptomatic phenotype. 14 donors had a type II deficiency (prevalence 1.45 per 1000; 95% CI = 0.79/1000 to 2.43/1000): one recurring and three unique mutations. None of these type II deficiencies appeared to confer a high thrombotic risk despite many of the affected individuals having experienced potentially prothrombotic challenges. The high frequency of these relatively asymptomatic variants may reflect a selection bias in the study population. However, their existence should not only add to our understanding of structure‐function relationships of AT but may also influence our management of asymptomatic deficient individuals identified in epidemiological or presurgical screening programmes.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Tait, Dr Robert and Walker, Prof Isobel
Authors: Tait, R.C., Walker, I. D., Perry, D.J., Islam, S.I.A.M., Daly, M.E., McCall, F., Conkie, J.A., and Carrell, R.W.>
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:British Journal of Haematology
Publisher:Wiley
ISSN:0007-1048
ISSN (Online):1365-2141

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