Prothrombin Habana: a new dysfunctional molecule of human prothrombin associated with a true prothrombin deficiency.
A Cuban family with a new congenital dysprothrombinaemia is described. The propositus was a 5-year-old female who presented with umbilical bleeding after birth followed by easy bruising and bleeding tendency throughout her life. The main laboratory features of the defect included prolongation of prothrombin time and partial thromboplastin time. Prothrombin activity was less than 10% in several one- and two-stage systems. However, the staphylocoagulase-complexed prothrombin level and immunologic methods yielded levels of about 50%. The migration of the abnormal prothrombin was more anodic in single and bidimensional immunoelectrophoresis system and did not change by the addition of calcium. Family studies revealed that the father had approximately 50% prothrombin activity and antigen, whereas the mother had 45% prothrombin activity but about 100% prothrombin antigen. We suggest that the propositus is heterozygous for an abnormal prothrombin and heterozygous for true prothrombin deficiency.
D002675:Child, Preschool; D005260:Female; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D007020:Hypoprothrombinemias / Q000097:blood / Q000151:congenital* / Q000235:genetics; D005779:Immunodiffusion; D007122:Immunoelectrophoresis; D010314:Partial Thromboplastin Time; D010375:Pedigree; D011516:Prothrombin / Q000032:analysis*; D011517:Prothrombin Time
C038872:prothrombin habana; D011516:Prothrombin