Abstract
We studied a family in which two infants had died with massive venous thrombosis shortly after birth. Protein C antigen was undetectable by immunologic assays of plasma available from one infant. (Protein C is a potent naturally occurring anticoagulant that inactivates activated coagulation factors V and VIII.) The parents, who were first cousins, both had partial protein C deficiency. Reduced protein C levels were also observed in 12 of 25 additional family members. None of the partially deficient family members (age range, 4 to 70 years) had thrombotic episodes. Our data support the view that hereditary protein C deficiency is an autosomal disorder in which the homozygous state may be manifested by the virtual absence of plasma protein C and by fatal thrombosis in the neonatal period. (N Engl J Med 1984; 310:559–62.).
Original language | English |
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Pages (from-to) | 559-562 |
Number of pages | 4 |
Journal | New England Journal of Medicine |
Volume | 310 |
Issue number | 9 |
DOIs | |
State | Published - 1 Mar 1984 |
Externally published | Yes |
ASJC Scopus subject areas
- General Medicine