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 |
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ページ(範囲) | 809-811 |
ページ数 | 3 |
ジャーナル | British Journal of Haematology |
巻 | 106 |
号 | 3 |
DOI | |
出版ステータス | Published - 1999 |
ASJC Scopus subject areas
- 血液学