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PubMed2004

Congenital hypofibrinogenemia.

Congenital afibrinogenemia/hypofibrinogenemia is an extremely rare coagulation disorder. We describe a case of congenital hypofibrinogenemia in a 6-year female child, who presented with recurrent ecchymotic spots with no frank bleeding.

Afibrinogenemia↗
PubMed2005

[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. CONCLUSION: 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.

Adult↗
PubMed2005

[Fibrinogen substitution. Use in the treatment of bleeding due to lack of fibrinogen].

Fibrinogen is critically important in haemostasis. The concentration of fibrinogen in plasma is usually between 2 and 4 g/l (6-13 micromol/l). No detectable fibrinogen is found in afibrinogenaemia, a condition characterised by dramatic bleeding, while dys- and hypofibrinogenaemia have a lower-than-normal activity of functional fibrinogen. Acquired fibrinogen deficiency may occur with a variety of underlying pathologies. Fibrinogen substitution may be done with fresh-frozen plasma, cryoprecipitate and virally inactivated concentrates of fibrinogen.

Afibrinogenemia↗