Paroxysmal Nocturnal Hemoglobinuria Clinical Picture And The Pig-a Gene Mutation

Paroxysmal Nocturnal Hemoglobinuria (PNH) is a common acquired hemolytic anemia. The main manifestations are recurrent episodes of hemoglobinuria , severe anemia and thrombosis. The pathogenesis of PNH is not entirely explicit. It is known to be associated with deficiency of several complement regulatory proteins and other GPI-anchored proteins on cell membrane , as well as mutation of PIG-A gene on X-chromosome. However, far more should be elucidated before the mechanism leading to the evolution of the diseases could be fully understood.Three issues are addressed in this dessertation.1. What is the nature of PNH if viewed clinically? Weanalysed the clinical features of 232 cases of PNH seen in PUMC Hospital since 1949 till the end of 1997, and compared with the data from England and France reported recently in 1995and 1996 respectively. The ratio of male to female patients was 2. 7 to 1 in our group as compared with 1 to 1. 3 in western Europe. The age of onset was younger in our cases than that in western countries. Anemia and pancytopenia were the major clinical manifestations in Chinese patients . Thrombosis and hemorrhage were the most important threatening complications and causes of death among patients in western countries, while in China the common causes of death were serious infection and severe anemia. According to Kaplan-Meier's method, the acturial survival rate in the 30th year after onset of disease was 58.29 ± 6.43% in Chinese patients. 10% of the patients could attain complete clinical remission. The results support our preious understanding that PNH is a protracted but benign disease.2. Is it possible to establish a GPI protein negative cell line from blood cells of a patient with PNH? In order to meet the demand of sufficient number of abnormal cells for further studies,we tried...