[A Family with Congenital Dysfibrinogenemia and Blood Transfusion].

OBJECTIVE

To investigate a family with congenital dysfibrinogenemia, and analyze the risk of hemorrhage and thrombosis and blood transfusion strategies.

METHODS

Prothrombin time (PT), activated partial thromboplastin time (APTT) and thrombin time (TT) of the proband and her family members were detected by automatic coagulometer, fibrinogen (Fg) activity and antigen were detected by Clauss method and PT algorithm respectively. Meanwhile, thromboelastometry was analyzed for proband and her family members. Then, peripheral blood samples of the proband and her family members were collected, and all exons of and and their flanks were amplified by PCR and sequenced to search for gene mutations.

RESULTS

The proband had normal APTT and PT, slightly prolonged TT, reduced level of Fg activity (Clauss method). The Fg of the proband's aunt, son and daughter all decreased to varying degrees. The results of thromboelastogram indicated that Fg function of the proband and her family members (except her son) was basically normal. Gene analysis showed that there were 6233 G/A (p.AαArg35His) heterozygous mutations in exon 2 of gene in the proband, her children and aunt. In addition, 2 polymorphic loci were found in the family, they were gene g.9308A/G (p.AαThr331Ala) and gene g.12628G/A (p.BβArg478Iys) polymorphism, respectively. The proband was injected with 10 units of cryoprecipitate 2 hours before delivery to prevent bleeding, and no obvious bleeding occurred during and after delivery.

CONCLUSION

Heterozygous mutation of 6233G/A (p.AαArg35His) of gene is the biogenetic basis of the disease in this family with congenital dysfibrinogenemia.