Evaluation of Denaturing High Performance Liquid Chromatography (DHPLC) in the Analysis of Hemophilia A

摘要: Hemophilia A is the most common severe bleeding disorder in humans, affecting one 5000 male newborns. The phenotype due to deficiency or absence of coagulation factor VIII:C caused by deleterious mutations VIII (FVIII) gene. Affected individuals develop a variable degree hemorrhage predominantly into joints and muscles with severity frequency symptoms correlating well residual activity blood plasma. About 50% patients exhibit while 10% show moderate 40% mild expression disease [1]. replacement human derived from plasma recombinant sources treatment choice this disorder. major complication therapy development antibodies against exogenous VIII, rendering ineffective.