title: Combined factor V and factor VIII deficiency in a Thai patient: a case report of genotype and phenotype characteristics.
abstract: A Thai woman, with no family history of bleeding disorders, presented with excessive bleeding after minor trauma and tooth extraction. The screening coagulogram revealed prolonged activated partial thromboplastin time and prothrombin time. The specific-factor assay confirmed the diagnosis of combined factor V and factor VIII deficiency (F5F8D). Her plasma levels of factor V and factor VIII were 10% and 12.5% respectively. The medications and blood product treatment to prevent bleeding from invasive procedure included 1-deamino-8-d-arginine vasopressin, cryoprecipitate, factor VIII concentrate, fresh frozen plasma and antifibrinolytic agent. Gene analysis of the proband identified two LMAN1 gene mutations; one of which is 823-1 G --> C, a novel splice acceptor site mutation that is inherited from her father, the other is 1366 C --> T, a nonsense mutation that is inherited from her mother. Thus, the compound heterozygote of these two mutations in LMAN1 cause combined F5F8D.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. rasrb@mahidol.ac.th
authors.forename: N
authors.initials: N
authors.lastname: Sirachainan
authors.forename: B
authors.initials: B
authors.lastname: Zhang
authors.forename: A
authors.initials: A
authors.lastname: Chuansumrit
authors.forename: S
authors.initials: S
authors.lastname: Pipe
authors.forename: W
authors.initials: W
authors.lastname: Sasanakul
authors.forename: D
authors.initials: D
authors.lastname: Ginsburg
mesh_terms: D000328:Adult; D002675:Child, Preschool; D005165:Factor V / Q000032:analysis; D005166:Factor V Deficiency / Q000150:complications / Q000235:genetics*; D005169:Factor VIII / Q000032:analysis; D005192:Family Health; D005260:Female; D006467:Hemophilia A / Q000150:complications / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: D005165:Factor V; D005169:Factor VIII