Article
Novel variant fibrinogen γp.C352R produced hypodysfibrinogenemia leading to a bleeding episode and failure of infertility treatment.
International journal of hematology - 1 Sept 2021
Yoda Masahiro, Kaido Takahiro, Kamijo Tomu, Taira Chiaki, Higuchi Yumiko, Arai Shinpei, Okumura Nobuo
Abstract excerpt
INTRODUCTION: We identified a patient with a novel heterozygous variant fibrinogen, γp.C352R (Niigata II; N-II), who had a bleeding episode and failed infertility treatment and was suspected to have hypodysfibrinogenemia based on low and discordant fibrinogen levels (functional assay 0.33 g/L, immunological assay 0.91 g/L). We analyzed the mechanism of this rare phenotype of a congenital fibrinogen disorder....
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