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 language | English |
|---|---|
| Pages (from-to) | 809-811 |
| Number of pages | 3 |
| Journal | British Journal of Haematology |
| Volume | 106 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - 1999 Sep 24 |
Keywords
- Bleeding diathesis
- Coagulation factor X
- Genetics
- Gla domain
- Mutation
ASJC Scopus subject areas
- Hematology
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Zama, T., Murata, M., Watanabe, R., Yokoyama, K., Moriki, T., Ambo, H., Murakami, H., Kikuchi, M., & Ikeda, Y. (1999). A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo). British Journal of Haematology, 106(3), 809-811. https://doi.org/10.1046/j.1365-2141.1999.01614.x