title: A case of afibrinogenemia associated with A-alpha chain gene compound heterozygosity (HUMFIBRA c.[4110delA]+[3200+1G>T]).
abstract: The clinical features and molecular biology data of a case of afibrinogenemia are reported. The propositus is a 14-year-old girl who suffered several bleeding manifestations that were successfully treated with fibrinogen infusion. The afibrinogenemia results from compound heterozygosity for two mutations on the Aalpha chain gene (c.[4110delA]+[3200+1G>T]). The first mutation is a novel frameshift mutation inherited from her father. The second is a previously described Aalpha chain gene splice junction mutation inherited from her mother. Neither of the parents fulfills the criteria for hypofibrinogenemia.
authors.affiliation: Inserm U698, Université Paris7-Denis Diderot, Paris, France.
authors.forename: Eduardo
authors.initials: E
authors.lastname: Angles-Cano
authors.forename: Florence
authors.initials: F
authors.lastname: Mathonnet
authors.forename: Marie
authors.initials: M
authors.lastname: Dreyfus
authors.forename: Ségolène
authors.initials: S
authors.lastname: Claeyssens
authors.forename: Philippe
authors.initials: P
authors.lastname: de Mazancourt
mesh_terms: D000293:Adolescent; D000347:Afibrinogenemia / Q000235:genetics*; D005192:Family Health; D005260:Female; D005340:Fibrinogen / Q000235:genetics*; D006470:Hemorrhage / Q000209:etiology; D006579:Heterozygote; D006801:Humans; D040582:Inheritance Patterns; D009154:Mutation
chemical_list: C464794:fibrinogen Aalpha; D005340:Fibrinogen