A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo)

Takeru Zama, Mitsuru Murata, Reiko Watanabe, Kenji Yokoyama, Takanori Moriki, Hironobu Ambo, Hiroshi Murakami, Masao Kikuchi, Yasuo Ikeda

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

We report a new family with hereditary factor X deficiency. The propositus had a markedly prolonged prothrombin time, a mild prolongation of activated partial thromboplastin time and a clotting time activated by Russell's viper venom. Factor X activity in plasma was 3 u/dl (normal range 56-138 u/dl). Factor X antigen level was 61 u/dl. Molecular analysis revealed a homozygous mutation, Glu (GAG) to Gln (CAG) at residue 32 which normally undergoes γ-carboxylation within the γ-carboxyglutamic acid rich domain. The genotypes of family members completely correlated with their factor X activities. It is suggested that the Glu32 to Gln mutation is the molecular basis for the abnormal factor X in this family.

Original languageEnglish
Pages (from-to)809-811
Number of pages3
JournalBritish Journal of Haematology
Volume106
Issue number3
DOIs
Publication statusPublished - 1999 Sep 24

Keywords

  • Bleeding diathesis
  • Coagulation factor X
  • Genetics
  • Gla domain
  • Mutation

ASJC Scopus subject areas

  • Hematology

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