A case of dysfibrinogenemia without hemorrhagic diathesis or thromboembolism linked to a new mutation p.H103N in fibrinogen gamma chain

作者：Devignes Jean^*; Hanss Michel; Chabaud Angeline; Toussaint Hacquard Marie; Mansuy Ludovic; De Mazancourt Philippe; Lecompte Thomas

来源：ANNALES DE BIOLOGIE CLINIQUE, 2013, 71(4): 489-495.

DOI：10.1684/abc.2013.0872

• dysfibrinogenemia
• fibrinopeptide A
• fibrinopeptide B
• hemorrhagic diathesis
• thrombosis

This work describes a dysfibrinogenemia linked to a new mutation in the gene coding for fibrinogen gamma chain. Dysfibrinogenemia was fortuitously discovered in a 9-year old boy consulting for symptoms suggesting meningitis. DNA was extracted from blood, the fibrinogen genes coding for A alpha, B beta and gamma chains were sequenced, and compared with consensus sequences. Apart from the patient, dysfibrinogenemia and the mutation p.H103N in the gamma chain of fibrinogen with heterozygous status were found in his mother, without any symptom. This mutation is unknown in fibrinogen variant databases and seems to affect mostly fibrin polymerisation. The reporting of this new p.H103N mutation in the gamma chain has a great interest for improving the knowledge of the fibrinogen gene and its expression. Even if no haemorrhage was observed in this case, the expression of this mutation impaired the function of the molecule, particularly polymerisation, and could induce bleeding during an important surgery.

• 出版日期2013-8