Asymptomatic factor VII deficiency: gene analysis and structure-function relationships

作者：Kirkel Dean; Lin Ta Wei; Fu Sidney W; Dlott Jeffrey S; Sahud Mervyn A; McCaffrey Timothy; Rickles Frederick R^*

来源：Blood Coagulation & Fibrinolysis, 2010, 21(1): 91-94.

DOI：10.1097/MBC.0b013e328331e708

• asymptomatic factor VII deficiency
• coagulation
• factor VII deficiency
• factor VII Padua
• molecular diagnostics
• transfusion medicine

Factor VII Padua is a variant form of factor VII deficiency characterized by a prolongation of the prothrombin time (PT), when the assay is performed using rabbit brain thromboplastin. The PT is normal when performed using either human or ox brain thromboplastin reagents, or a recombinant human tissue factor-based thromboplastin. We report a case of an African-American woman with asymptomatic factor VII deficiency, who had a prolonged PT and factor VII activity levels of 5-8% using rabbit brain thromboplastin, but a normal PT and factor VII activity levels when measured using recombinant human brain thromboplastin or tissue factor. The amino acid substitution (R304Q), which gives rise to factor VII Padua, was found in our patient, making this only the fourth African-American case described to date with this mutation. Our report emphasizes the importance of identifying this benign form of factor VII deficiency in order to avoid unnecessary exposure of patients to treatment with either plasma-derived products or recombinant activated factor VII.

• 出版日期2010-1