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Congenital deficiency of blood clotting factors II, VII, IX, and X
KS Chung, A Bezeaud, JC Goldsmith, CW McMillan, D Menache and HR Roberts
A patient congenitally deficient in factors II, VII, IX, and X has been
further investigated after a follow-up of 15 yr. At birth, these factors,
when determined by clotting assays, were undetectable. Following therapy
with vitamin K1, the clotting activity of these factors rose but never
exceeded 18% of normal. Immunologic assays revealed much higher levels of
these factors than did clotting assays, thus suggesting that the
vitamin-K-dependent factors were present in abnormal forms. Two-dimensional
crossed immunoelectrophoresis showed that at least two forms of prothrombin
were present in the patient's plasma. One form was similar to normal
prothrombin; the other had the same mobility as acarboxyprothrombin. In
addition, the majority of this fast-migrating peak was not adsorbable onto
insoluble barium salts. These observations suggested that some molecules of
the patient's prothrombin lacked the normal complement of
gamma-carboxyglutamic acid residues. This observation was confirmed by a
specific assay for gamma- carboxyglutamate. Since malabsorption of vitamin
K, warfarin intoxication, and hepatic dysfunction were excluded as causes
of this patient's syndrome, this rare congenital abnormality could
represent either a defective gamma-carboxylation mechanism within the
hepatocyte or faulty vitamin K transport.
Volume 53,
Issue 4,
pp. 776-787,
04/01/1979
Copyright © 1979 by The American Society of Hematology
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