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Japanese family with congenital factor VII deficiency
Author(s) -
Sakakibara Kanae,
Okayama Yoshiki,
Fukushima Kenji,
Kaji Shunsaku,
Muraoka Michiko,
Arao Yujiro,
Shimada Akira
Publication year - 2015
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12696
Subject(s) - medicine , vitamin k deficiency , asymptomatic , factor vii , mutation , autosomal recessive inheritance , pediatrics , congenital disorder , vitamin k , coagulation , gastroenterology , endocrinology , genetics , surgery , gene , biology
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.