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Re: urche post# 9716

Wednesday, 04/06/2005 1:15:52 PM

Wednesday, April 06, 2005 1:15:52 PM

Post# of 257269
>>I realized that in 25 yrs of medical practice I have yet to encounter a creature in whom I was aware of the anti-thrombin deficiency diagnosis. So, it may take that long to not only find the creatures, but wait for them to have a high-risk procedure or pregnancy.<<

GTCB has listed a trial on centerwatch and clinicaltrials.gov, which is a reasonable way to recruit people with rare diseases. This trial is no longer recruiting patients, so it's not the trial they just announced.

http://www.centerwatch.com/patient/studies/stu44674.html
http://www.clinicaltrials.gov/ct/gui/show/NCT00056550?order=5

It's a pretty rare condition, so it's not surprising you haven't come across it.

"Antithrombin deficiency is present in 0.17% of the general population. 6 It accounts for 1.1% of unselected patients with venous thrombosis and up to 5% of patients younger than age 70 years with thrombosis. 7,8 Over 127 mutations in the antithrombin gene are known to cause hereditary antithrombin deficiency. 9"
http://www.mgh.harvard.edu/labmed/lab/coag/handbook/CO000300.htm

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