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 |
Externally published | Yes |
Keywords
- Bleeding diathesis
- Coagulation factor X
- Genetics
- Gla domain
- Mutation
ASJC Scopus subject areas
- Hematology