Factor XI deficiency caused by a mutation of Gly400Val

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  • SATO Tsutomu
    Fourth Department of Internal Medicine, Sapporo Medical University, School of Medicine
  • IYAMA Satoshi
    Fourth Department of Internal Medicine, Sapporo Medical University, School of Medicine
  • ARAKI Naoko
    Fourth Department of Internal Medicine, Sapporo Medical University, School of Medicine
  • MURASE Kazuyuki
    Fourth Department of Internal Medicine, Sapporo Medical University, School of Medicine
  • SATO Yasushi
    Fourth Department of Internal Medicine, Sapporo Medical University, School of Medicine
  • KOBUNE Masayoshi
    Fourth Department of Internal Medicine, Sapporo Medical University, School of Medicine
  • TAKIMOTO Rishu
    Fourth Department of Internal Medicine, Sapporo Medical University, School of Medicine
  • MATSUNAGA Takuya
    Fourth Department of Internal Medicine, Sapporo Medical University, School of Medicine
  • KATO Junji
    Fourth Department of Internal Medicine, Sapporo Medical University, School of Medicine
  • KURODA Hiroyuki
    Department of Internal Medicine, Higashi Sapporo Hospital
  • NIITSU Yoshiro
    Fourth Department of Internal Medicine, Sapporo Medical University, School of Medicine

Bibliographic Information

Other Title
  • Gly400Valの遺伝子異常を認めた先天性第XI因子欠乏症
  • 症例報告 Gly400Valの遺伝子異常を認めた先天性第11因子欠乏症
  • ショウレイ ホウコク Gly400Val ノ イデンシ イジョウ オ ミトメタ センテンセイ ダイ11 インシ ケツボウショウ

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Abstract

The patient described herein is a 69-year-old Japanese woman with a history of excessive bleeding after left heminephrectomy for a malignant renal tumor at 31 years of age. Her parents, who do not have abnormal bleeding, are first cousins. Her factor XI activity was less than 1% of normal with an prolonged activated partial thromboplastin time (APTT) of 74.3 seconds. Analysis of the patient's factor XI genes revealed homozygosity for a valine substituting for the wild-type glycine at amino acid 400 (Gly400Val). The patient has two children, neither of whom has abnormal bleeding and whose factor XI activities are 62% and 57% of normal, with APTT levels within normal limits in both cases. We herein report on a Japanese family with factor XI deficiency caused by Gly400Val mutation.

Journal

  • Rinsho Ketsueki

    Rinsho Ketsueki 48 (2), 148-150, 2007

    The Japanese Society of Hematology

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