[Inherited dysfibrinogenemia caused by Arg16His mutation in alpha chain of fibrinogen.].
OBJECTIVE
To analyze the phenotype and genotype of a family with inherited dysfibrinogenemia.


METHODS
Assays of coagulation, including activated partial thromboplastin time (APTT), prothrombin time (PT) and thrombin time (TT), were carried out with Stago Compact in the proband and his family members. The activity and antigen of fibrinogen in plasma were determined by Clauss and immunoturbidimetry, respectively. Fibrinogen and its constituent were analyzed by Western blot with nonreducing 4%-20% SDS-polyacrylamide gel electrophoresis (PAGE). All exons and exon-intron boundaries of fibringen genes FGA, FGB and FGG were analyzed by PCR and then direct sequencing.


RESULTS
The proband had normal APTT and PT, but prolonged TT. The activity of fibrinogen in plasma was decreased while its antigen level was normal. These abnormalities were also found in his mother and a sister. Genetic analysis revealed heterozygous G1233A in the exon 2 of FGA originating from his mother, which resulted in Arg16His missense mutation.


CONCLUSIONS
Inherited dysfibrinogenemia was caused by Arg16His mutation in exon 2 of FGA, and this is the first case reported in a Chinese family.
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Suzhou 215006, China.
Xiao-Juan
XJ
Zhao
Zhao-Yue
ZY
Wang
Ming-Hua
MH
Jiang
Wei
W
Zhang
Li-Juan
LJ
Cao
Zhen-Ni
ZN
Ma
Ning-Zheng
NZ
Dong
Xia
X
Bai
Zi-Qiang
ZQ
Yu
Chang-Geng
CG
Ruan
D005340:Fibrinogen / Q000235:genetics; D005838:Genotype; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
D005340:Fibrinogen