Hereditary Antithrombin Deficiency
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Epidemiology

The prevalence of Type I HD in the general population has been estimated to range from 1 in 2,000 to 1 in 20,000 individuals, although the range is more commonly reported to be 1 in 2,000 to 1 in 5,000.  One estimate citing a prevalence of 1 in 5,000 was derived from unpublished observations made during a screening study of 25,000 women, of which 5 were found to have HD.  Recently, an analysis of 9 previously published general prevalence studies estimated that the incidence of Type I HD in the adult population ranges from 1 in 1,841 (0.05%) to 1 in 2,801 (0.04%).

Interestingly, a survey of 4,000 healthy blood donors evaluating both Type I and Type II mutations indicated that Type II HD could be as much as 10 to 15-fold as prevalent than Type I HD.


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References

Internal Report: MetaWorks Inc., "Hereditary Deficiency of Antithrombin III:
Prevalence and Thrombosis Prevention: A Systematic Review of the Literature"; April 12, 2002.

Abildgaard, U. (1981) Antithrombin and related inhibitors of coagulation.
Recent advances in blood coagulation 3:151-173.

Tait, R. C., Walker, I. D., Perry, D. J., Islam, S. I., Daly, M. E., McCall, F., Conkie, J. A. Carrell, R. W.
(1994) Prevalence of antithrombin deficiency in the healthy population. Br J Haematol. 87:106-112.

van Boven, H.H., and Lane, D. A. (1997) Antithrombin and its inherited deficiency states.
Seminars in Hematology 34:188-204.




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