Clinical and laboratory diagnosis and management of rare bleeding diseases / 中华检验医学杂志

ABSTRACT

Rare bleeding disorders (RBD) are autosomal recessive inherited diseases caused by one or more coagulation factor defects, including the deficiency of fibrinogen (FG), prothrombin, factor (F)V, Ⅶ, Ⅹ，Ⅺ, Ⅷ and so on. Due to the low prevalence of RBD, and lack of large-scale randomized controlled studies in the world, where are great challenges to clinicians in diagnosis and treatment of this series of diseases. Facing in the heterogeneity of clinical phenotype and laboratory characteristics, it is more necessary to strengthen the communication and cooperation between the clinical and laboratory, realizing comprehensive management.