Clinical and laboratory diagnosis and management of rare bleeding diseases
10.3760/cma.j.cn114452-20200319-00275
- VernacularTitle:临床与实验室联动以提高罕见出血疾病的诊治效能
- Author:
Chao ZHU
1
;
Jialiang GUAN
;
Wenman WU
;
Xuefeng WANG
Author Information
1. 青岛大学附属医院检验科，青岛266001
- Keywords:
Rare bleeding disorders;
Diagnosis;
Comprehensive management;
Laboratory diagnosis
- From:
Chinese Journal of Laboratory Medicine
2020;43(10):951-955
- CountryChina
- Language:Chinese
-
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.
