Prevalence of antithrombin deficiency in the healthy population.
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.
Mots-clés Pascal : Déficit, Antithrombine, Prévalence, Donneur sang, Variant, Epidémiologie, Ecosse, Grande Bretagne, Royaume Uni, Europe, Ouest, Homme, Hémopathie, Coagulopathie
Mots-clés Pascal anglais : Deficiency, Antithrombin, Prevalence, Blood donor, Variant, Epidemiology, Scotland, Great Britain, United Kingdom, Europe, West, Human, Hemopathy, Coagulopathy
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 94-0549462
Code Inist : 002B19C. Création : 09/06/1995.