title: Prevalence of antithrombin deficiency in the healthy population.
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.
authors.affiliation: Department of Haematology, Royal Infirmary, Glasgow.
authors.forename: R C
authors.initials: RC
authors.lastname: Tait
authors.forename: I D
authors.initials: ID
authors.lastname: Walker
authors.forename: D J
authors.initials: DJ
authors.lastname: Perry
authors.forename: S I
authors.initials: SI
authors.lastname: Islam
authors.forename: M E
authors.initials: ME
authors.lastname: Daly
authors.forename: F
authors.initials: F
authors.lastname: McCall
authors.forename: J A
authors.initials: JA
authors.lastname: Conkie
authors.forename: R W
authors.initials: RW
authors.lastname: Carrell
mesh_terms: D000328:Adult; D000991:Antithrombins / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D001778:Blood Coagulation Disorders / Q000151:congenital / Q000453:epidemiology* / Q000235:genetics; D001782:Blood Donors; D015331:Cohort Studies; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D015995:Prevalence; D012606:Scotland / Q000453:epidemiology
chemical_list: D000991:Antithrombins