Tags

Type your tag names separated by a space and hit enter

Congenital deficiency of blood clotting factors II, VII, IX, and X.
Blood 1979; 53(4):776-87Blood

Abstract

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.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

426915

Citation

Chung, K S., et al. "Congenital Deficiency of Blood Clotting Factors II, VII, IX, and X." Blood, vol. 53, no. 4, 1979, pp. 776-87.
Chung KS, Bezeaud A, Goldsmith JC, et al. Congenital deficiency of blood clotting factors II, VII, IX, and X. Blood. 1979;53(4):776-87.
Chung, K. S., Bezeaud, A., Goldsmith, J. C., McMillan, C. W., Ménaché, D., & Roberts, H. R. (1979). Congenital deficiency of blood clotting factors II, VII, IX, and X. Blood, 53(4), pp. 776-87.
Chung KS, et al. Congenital Deficiency of Blood Clotting Factors II, VII, IX, and X. Blood. 1979;53(4):776-87. PubMed PMID: 426915.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Congenital deficiency of blood clotting factors II, VII, IX, and X. AU - Chung,K S, AU - Bezeaud,A, AU - Goldsmith,J C, AU - McMillan,C W, AU - Ménaché,D, AU - Roberts,H R, PY - 1979/4/1/pubmed PY - 1979/4/1/medline PY - 1979/4/1/entrez SP - 776 EP - 87 JF - Blood JO - Blood VL - 53 IS - 4 N2 - 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. SN - 0006-4971 UR - https://www.unboundmedicine.com/medline/citation/426915/Congenital_deficiency_of_blood_clotting_factors_II_VII_IX_and_X_ L2 - http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=426915 DB - PRIME DP - Unbound Medicine ER -