Ⅺ deficiency in Chinese Han population. Conclusion The 13 mutations of the F Ⅺ gene which were found in this study may unravel the molecular pathogenesis of the F Ⅺ deficiency in Chinese Han population.

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.

OBJECTIVETo analyze the phenotype and genotype of a family with inherited dysfibrinogenemia.

METHODSLaboratory tests including activated particle thromboplastin time (APTT), prothrombin time (PT), thrombin time (TT), and the activity of protein C (PC), protein S(PS) and antithrombin (AT) were conducted in the proband and 4 family members. The activity and antigen of fibrinogen in plasma were measured by functional and immunoturbidimetry assay, respectively. All the exons and exon-intron boundaries of the three fibrinogen genes were analyzed by direct sequencing.

RESULTSThe proband had normal APTT and PT, but prolonged TT. Her plasma fibrinogen levels were extremely reduced, which was also found in her mother. The sequencing results of the proband revealed heterozygous g.5678 G>A in the exon 8 of FGG gene originating from her mother, which caused Arg275His missense mutation.

CONCLUSIONDysfibrinogenemia in the family is caused by Arg275His in the beta chain of fibrinogen and it is the first report on a Chinese family with inherited dysfibrinogenemia.

Adult ; Afibrinogenemia ; blood ; genetics ; Amino Acid Substitution ; Arginine ; genetics ; DNA Mutational Analysis ; Female ; Fibrinogen ; genetics ; metabolism ; Histidine ; genetics ; Humans ; Male ; Pedigree ; Phenotype