"[TTP] was known as a dangerous disorder, in which patients suddenly
became very ill and could be treated only by replacing their blood
plasma" said HHMI investigator David Ginsburg.
On October 4, 2001 researchers have determined the cause of a potentially
deadly inherited blood-clotting disorder that can lead to kidney failure
or stroke.
The researchers found that the disorder, thrombotic thrombocytopenic
purpura (TTP), is caused by mutations in a gene that render the ADAMTS13
enzyme ineffective. The research suggests that it might be possible to
treat TTP by administering an active form of the enzyme, in much the same
way that people with hemophilia receive clotting factor.