[Inherited dysfibrinogenemia caused by Arg275His in the beta chain of fibrinogen].
OBJECTIVE
To analyze the phenotype and genotype of a family with inherited dysfibrinogenemia.


METHODS
Laboratory 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.


RESULTS
The 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.


CONCLUSIONS
Dysfibrinogenemia 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.
Fang
Yi
Y
Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai, 200025 P. R. China.
Wang
Xuefeng
X
Qi
Hua
H
Wu
Wenman
W
Ding
Qiulang
Q
Dai
Jing
J
Zhou
Rongfu
R
Wang
Wenbin
W
Xie
Shuang
S
Wang
Hongli
H
D000328:Adult; D000347:Afibrinogenemia / Q000097:blood / Q000235:genetics*; D019943:Amino Acid Substitution; D001120:Arginine / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005340:Fibrinogen / Q000235:genetics* / Q000378:metabolism; D006639:Histidine / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype
D006639:Histidine; D005340:Fibrinogen; D001120:Arginine