Congenital factor VII abnormality discovered in an infant at a routine checkup.
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.
Fujita
I
I
Department of Pediatrics, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Takahashi
Y
Y
Sakaguchi
T
T
Joh
K
K
Ueda
K
K
Takamiya
O
O
D001780:Blood Coagulation Tests; D005168:Factor VII Deficiency / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant