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

研究成果: Article査読

16 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)809-811
ページ数3
ジャーナルBritish Journal of Haematology
106
3
DOI
出版ステータスPublished - 1999

ASJC Scopus subject areas

  • 血液学

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