title: [Gene mutation analysis of coagulation factor VIII from a female patient with hemophilia A].
abstract: Hemophilia A affects male, whereas females are carriers and generally spared from this disease. However, we here reported a 65-year-old female with Hemophilia A while screening the gene mutation of coagulation factor VIII. The female went to hospital because of tripping to lead her right chest to be injured with subcutaneous hematoma. She had historically a hemorrhagic diathesis. The physical examination discovered her hip limited to bend and move, but no discrepancy length between her two legs. The initial laboratory tests showed that the activated partial thromboplastin time (APTT) was 61. 3 seconds (20-40 seconds), and the APTT corrected by mixing with normal plasma was 41.3 s, but the levels of PT, FIB and TT were normal. The plain radiographs revealed the hip joints to suffer from the acetabular dysplasia and osteoarthritis. The level of FVIII:C was 2%, F IX:C 200%, vWF:Ag 120%, vWF:Rcof 100%, vWF:CBA 128%, and the F VIII binding assay to vWF was normal. The primers for exon 14 of F VIII gene were designed according to the NM - 000132 gene sequence. DNA was abstracted from the patient blood. PCR were carried out and the DNA sequence was followed. A new mutation of 4111A-->C was discovered, which caused the amino acid sequence changed (T 1314 P). The mutation of T 1314 P may be the cause of this female patient to get the hemophilia A. This mutation was a novel one which has never been reported before.
authors.affiliation: Clinical Hemotology Laboratory Department, West China Hospital, Sichuan University, Chengdu 610041, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Zhou
authors.forename: Nai-hong
authors.initials: NH
authors.lastname: Yan
authors.forename: Yong-qian
authors.initials: YQ
authors.lastname: Jia
authors.forename: Yi-lu
authors.initials: YL
authors.lastname: Lu
authors.forename: Jiang
authors.initials: J
authors.lastname: Yu
authors.forename: Gui-qun
authors.initials: GQ
authors.lastname: Cao
authors.forename: Qing-ying
authors.initials: QY
authors.lastname: Chen
authors.forename: Ling
authors.initials: L
authors.lastname: Wang
authors.forename: Fa-qiang
authors.initials: FQ
authors.lastname: Zhang
authors.forename: Oing-jie
authors.initials: OJ
authors.lastname: Xia
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D017422:Sequence Analysis, DNA
chemical_list: D005169:Factor VIII