title: Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093Ile.
abstract: Hemophilia A (HA) in females is rare. Female HA cases are often misdiagnosed as acquired HA (AHA) or as von Willebrand disease type 2N (vWD-2N). Here, we report the case of a 37-year-old female HA patient with a moderate factor VIII (FVIII) deficiency. The patient had no personal or family history of bleeding disorders, but presented with heavy uterine bleeding following surgery to remove an intrauterine device. IgG inhibitory antibodies against FVIII were undetected. A compound heterozygote mutation of the FVIII gene (F8) was found in this patient. The p.Val502Asp mutation, which has been reported previously, affects A2 domain function. A novel missense point mutation, p.Met1093Ile, was identified in the B domain. The compound heterozygote mutations in F8, p.Val502Asp and p.Met1093Ile, caused HA in this female patient, with a moderate phenotype.
authors: Department of Hematology, Peking University First Hospital, Beijing 100034, P.R. China.
authors: Shu-Kai
authors: SK
authors: Qiao
authors: Department of Hematology, Peking University First Hospital, Beijing 100034, P.R. China.
authors: Han-Yun
authors: HY
authors: Ren
authors: Department of Hematology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei 050000, P.R. China.
authors: Jin-Hai
authors: JH
authors: Ren
authors: Department of Hematology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei 050000, P.R. China.
authors: Xiao-Nan
authors: XN
authors: Guo
mesh_terms: D000328:Adult; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006467:Hemophilia A / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype
chemical_list: D005169:Factor VIII