title: Japanese family with congenital factor VII deficiency.
abstract: Congenital factor VII (FVII) deficiency is a rare bleeding disorder with autosomal recessive inheritance. The present female patient was diagnosed with congenital FVII deficiency because of low hepaplastin test (HPT), although vitamin K was given. Heterozygous p.A191T mutation was detected in the peripheral blood, and the same mutation was also found in the mother and sister. To the best of our knowledge, this is the fourth reported case of p.A191T mutation of FVII in the literature and the first to be reported in Japan. FVII coagulation activity (FVII:C) in asymptomatic heterozygous carriers is mildly reduced. Therefore, some patients may not be accurately diagnosed with congenital FVII deficiency. In infants with low HPT without vitamin K deficiency, congenital FVII deficiency should be considered.
authors: Division of Medical Support, Okayama University Hospital, Tsuyama, Okayama, Japan.|Field of Medical Technology, Okayama University Graduate School of Health Sciences, Tsuyama, Okayama, Japan.
authors: Kanae
authors: K
authors: Sakakibara
authors: Department of Pediatrics, Tsuyama Central Hospital, Tsuyama, Okayama, Japan.
authors: Yoshiki
authors: Y
authors: Okayama
authors: Department of Pediatrics, Tsuyama Central Hospital, Tsuyama, Okayama, Japan.
authors: Kenji
authors: K
authors: Fukushima
authors: Department of Pediatrics, Tsuyama Central Hospital, Tsuyama, Okayama, Japan.
authors: Shunsaku
authors: S
authors: Kaji
authors: Department of Pediatrics, Okayama University Hospital, Tsuyama, Okayama, Japan.
authors: Michiko
authors: M
authors: Muraoka
authors: Field of Medical Technology, Okayama University Graduate School of Health Sciences, Tsuyama, Okayama, Japan.
authors: Yujiro
authors: Y
authors: Arao
authors: Department of Pediatrics, Okayama University Hospital, Tsuyama, Okayama, Japan.
authors: Akira
authors: A
authors: Shimada
mesh_terms: D000941:Antigens / Q000097:blood / Q000235:genetics*; D001780:Blood Coagulation Tests; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005167:Factor VII / Q000235:genetics*; D005168:Factor VII Deficiency / Q000097:blood / Q000235:genetics*; D005190:Family; D005260:Female; D005500:Follow-Up Studies; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007564:Japan; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype
chemical_list: D000941:Antigens; C042580:factor VII clotting antigen; D005167:Factor VII; D004247:DNA
keywords: factor VII deficiency; hepaplastin test; mutation; vitamin K