Japanese family with congenital factor VII deficiency |
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| Authors: | Kanae Sakakibara Yoshiki Okayama Kenji Fukushima Shunsaku Kaji Michiko Muraoka Yujiro Arao Akira Shimada |
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| Affiliation: | 1. Division of Medical Support, Okayama University Hospital, Tsuyama, Okayama, Japan;2. Field of Medical Technology, Okayama University Graduate School of Health Sciences, Tsuyama, Okayama, Japan;3. Department of Pediatrics, Tsuyama Central Hospital, Tsuyama, Okayama, Japan;4. Department of Pediatrics, Okayama University Hospital, Tsuyama, Okayama, Japan |
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| 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. |
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| Keywords: | factor VII deficiency hepaplastin test mutation vitamin K |
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