Prevalence of antithrombin deficiency in the healthy population

Br J Haematol. 1994 May;87(1):106-12. doi: 10.1111/j.1365-2141.1994.tb04878.x.

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.

MeSH terms

  • Adult
  • Antithrombins / deficiency*
  • Antithrombins / genetics
  • Antithrombins / metabolism
  • Blood Coagulation Disorders / congenital
  • Blood Coagulation Disorders / epidemiology*
  • Blood Coagulation Disorders / genetics
  • Blood Donors
  • Cohort Studies
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Prevalence
  • Scotland / epidemiology

Substances

  • Antithrombins