Prothrombin Poissy: a new variant of human prothrombin.
A new congenital dysprothrombinaemia is described in a newborn baby girl who presented severe bleeding from the second day of life. Routine coagulation tests showed very prolonged prothrombin time and activated partial thromboplastin time with about 2% prothrombin activity in a one-stage assay. Staphylocoagulase and Echis carinatus venom prothrombin assays were respectively 35% and 25%. The prothrombin antigen level was 47% and its migration in crossed immuno-electrophoresis was abnormal. Family study revealed the presence of both normal and abnormal prothrombin in the plasma of three family members: the father, the mother and the brother. Thrombin generation in a system free from natural inhibitors showed that the abnormal prothrombin was slowly and incompletely activated. The propositus is thought to be homozygous for a 'lazy' dysprothrombin.
D001778:Blood Coagulation Disorders / Q000097:blood* / Q000235:genetics; D005260:Female; D006801:Humans; D007123:Immunoelectrophoresis, Two-Dimensional; D007231:Infant, Newborn; D011516:Prothrombin / Q000032:analysis*
C053346:prothrombin Poissy; D011516:Prothrombin