A case of afibrinogenemia associated with A-alpha chain gene compound heterozygosity (HUMFIBRA c.[4110delA]+[3200+1G>T]).
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.
Angles-Cano
Eduardo
E
Inserm U698, Université Paris7-Denis Diderot, Paris, France.
Mathonnet
Florence
F
Dreyfus
Marie
M
Claeyssens
Ségolène
S
de Mazancourt
Philippe
P
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
C464794:fibrinogen Aalpha; D005340:Fibrinogen