Diagnosis of inherited bleeding disorders in the genomic era.

摘要: Inherited bleeding disorders affect between 1 in 1000 individuals for the most common disorder, von Willebrand Disease, to only 8 reported cases worldwide of alpha-2-antiplasmin deficiency. Those with an identifiable abnormality can be divided into coagulation factors (87%), platelet count and function (8%) fibrinolytic system (3%). Of patients registered UK a remaining 2% are unclassifiable. In addition symptoms, inherited disorder manifest other abnormalities, making accurate complete diagnosis that reflects underlying molecular pathology important. Although some still easily diagnosed through combination careful clinical assessment laboratory assays varying degrees complexity, there many where conventional approaches inadequate. Improvements phenotyping have enhanced our diagnostic armoury but genotyping now offers these conditions. The advent next generation sequencing technology has meant genes analysed routinely practice. Here, we discuss different tools currently available suggest should incorporated at early stage pathway.