title: A splicing donor site point mutation in intron 6 of the plasmin inhibitor (alpha2 antiplasmin) gene with heterozygous deficiency and a bleeding tendency.
abstract: A new case of familial plasmin inhibitor (alpha2 antiplasmin) deficiency is reported. The bleeding symptoms are moderate, happening after surgery or trauma or consisting of abnormal uterine bleeding induced by hormone replacement therapy. It is easily corrected with tranexamic acid. Gene sequencing makes it possible to find a splicing donor site mutation of intron 6, leading to exon 6 skipping. Neither a shortened variant nor an abnormal plasmin interaction was found in plasma by immunoblotting, and fibrin binding is unaffected. The mutation is heterozygous, associated with an intermediate decrease of both antiplasmin activity and antigen levels, and was found in four other family members out of five tested. It is different from the five mutations previously reported. At the time of diagnosis, the patient was living in Artas, France, allowing the defect to be named plasmin inhibitor (alpha2 antiplasmin) Artas.
authors.affiliation: Haematology Laboratory, L Pradel Hospital, Lyon, France. michel.hanss@chu-lyon.fr
authors.forename: Michel M L
authors.initials: MM
authors.lastname: Hanss
authors.forename: Mathilde
authors.initials: M
authors.lastname: Farcis
authors.forename: Patrick O
authors.initials: PO
authors.lastname: Ffrench
authors.forename: Philippe
authors.initials: P
authors.lastname: de Mazancourt
authors.forename: Marc
authors.initials: M
authors.lastname: Dechavanne
mesh_terms: D005192:Family Health; D005260:Female; D006470:Hemorrhage / Q000188:drug therapy / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007438:Introns; D008875:Middle Aged; D017354:Point Mutation; D022821:RNA Splice Sites / Q000235:genetics*; D014148:Tranexamic Acid / Q000627:therapeutic use; D000979:alpha-2-Antiplasmin / Q000032:analysis / Q000172:deficiency / Q000235:genetics*
chemical_list: D022821:RNA Splice Sites; D000979:alpha-2-Antiplasmin; D014148:Tranexamic Acid