作者: ROBERT L. ROSENTHAL , O. HERMAN DRESKIN , NATHAN ROSENTHAL
DOI: 10.1182/BLOOD.V10.2.120.120
关键词: Surgery 、 Internal medicine 、 Heparin 、 Coagulation testing 、 Clotting time 、 Coagulation 、 Penetrance 、 Autosomal dominant trait 、 Variable Expression 、 Medicine 、 Factor XI 、 Gastroenterology
摘要: 1. An analysis of the original PTA deficient family, including coagulation studies performed upon 13 members comprising 4 generations, has been presented. 2. deficiency is transmitted as an autosomal dominant trait with a probable high degree penetrance and variable expression gene. 3. can occur its varying degrees ranging from severe form prolonged clotting time markedly abnormal heparin prothrombin utilization to mild manifesting normal slightly impaired utiliztition. 4. Studies on treatment reveal that defect corrected by administration stored plasma effect gradually disappearing over period one week. 5. Various properties are discussed compared AHG PTC.