Congenital factor VII abnormality discovered in an infant at a routine checkup

Am J Pediatr Hematol Oncol. 1991 Spring;13(1):47-8. doi: 10.1097/00043426-199121000-00011.

Abstract

Congenital coagulation factor VII abnormality in an infant was first discovered because of a decreased normotest value at a routine health checkup at the age of 1 month. No bleeding tendency had been noticed. The normotest value did not respond to an administration of vitamin K. The prothrombin time (PT) was prolonged, and the activated partial thromboplastin time (A-PTT) was in the normal range. Factor VII activity was extremely low, whereas the level of factor VII antigen was relatively low. These data indicate that the propositus is a factor VII reduced variant, a rare variant of congenital factor VII deficiency. The propositus and her brother are homozygotes, and her parents and sister are heterozygotes.

Publication types

  • Case Reports

MeSH terms

  • Blood Coagulation Tests
  • Factor VII Deficiency / congenital*
  • Factor VII Deficiency / diagnosis
  • Factor VII Deficiency / genetics
  • Female
  • Homozygote
  • Humans
  • Infant