Attention should be given to the diagnosis of rare inherited coagulation disorders

VernacularTitle:重视罕见遗传性凝血因子缺陷症的诊断
Author: Yeling LU ¹ ; Qiulan DING ; Xuefeng WANG
Author Information

1. 上海交通大学医学院附属瑞金医院，检验科，上海　200025
Keywords: Blood coagulation disorders, inherited; Coagulation factor; Diagnose
From: Chinese Journal of Laboratory Medicine 2024;47(5):486-492
CountryChina
Language:Chinese
Abstract: Rare inherited coagulation disorders(RCD) are defined as diseases caused by deficiency of coagulation factor/factors, other than factor Ⅷ,factor Ⅸ or von Willebrand factor.RCD are mainly autosomal recessive inheritance disorders with prevalences from 1 in 50 0000 to 1 in 200 0000.The clinical manifestations of RCD are heterogeneous, mainly characterized by bleeding, but thrombosis or no clinical manifestations can also occur. Accurate understanding and diagnosis of RCD is of great significance for clinical treatment.