Identification of a dysfibrinogenemia of γR275C (Fibrinogen Fukushima)

Yuji Imafuku, Kyoko Tanaka, Kiyoaki Takahashi, Kazuei Ogawa, Minoru Sanpei, Hidekazu Yamada, Akira Sato, Hiroshi Yoshida

    Research output: Contribution to journalArticle

    7 Citations (Scopus)

    Abstract

    Background: Various dysfibrinogenemias have been identified worldwide. This paper describes a case of dysfibrinogenemia recently identified in our laboratory. Patient: A 34-year-old pregnant woman without any clinical complaints was admitted to our hospital for delivery. She had an extremely low fibrinogen concentration as determined by the thrombin time method though immunoassay showed a titer within the reference range. Dysfibrinogenemia was suspected and further analyses were performed including on her family. Thrombin time was measured using human and bovine thrombin with and without calcium ion. Reptilase time was also measured. To identify the genetic mutation responsible for this dysfibrinogen, genomic DNA extracted from the blood was analyzed for mutation-rich regions in the fibrinogen gene. Results: The subject, her mother and her two infants showed the same pattern of results while her father showed a regular pattern. Thrombin time calculated using both human and bovine thrombin and reptilase time was elongated in the propositus. The extent of the elongation was decreased in the presence of calcium ion. DNA sequencing showed heterogeneous fibrinogen γR275C mutations in the propositus, mother and two children. The father showed no mutation. Conclusions: A case of dysfibrinogenemia γR275C without any clinical symptoms was found by routine coagulation testing and was genetically identified.

    Original languageEnglish
    Pages (from-to)151-156
    Number of pages6
    JournalClinica Chimica Acta
    Volume325
    Issue number1-2
    DOIs
    Publication statusPublished - 2002 Nov 1

    Keywords

    • Coagulation test
    • DNA sequencing
    • Dysfibrinogenemia
    • Immunoblotting
    • Thrombin time
    • γR275C

    ASJC Scopus subject areas

    • Biochemistry
    • Clinical Biochemistry
    • Biochemistry, medical

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  • Cite this

    Imafuku, Y., Tanaka, K., Takahashi, K., Ogawa, K., Sanpei, M., Yamada, H., Sato, A., & Yoshida, H. (2002). Identification of a dysfibrinogenemia of γR275C (Fibrinogen Fukushima). Clinica Chimica Acta, 325(1-2), 151-156. https://doi.org/10.1016/S0009-8981(02)00293-0