title: [Screening and analysis of coagulation factor VIII inhibitor in patients with hemophilia A].
abstract: In order to detect coagulation factor VIII (FVIII) inhibitor in patients with severe hemophilia A (HA) and preliminarily study the genetic mutation in patients with inhibitor positive. Totally 58 patients with HA (FVIII: C < 1%) were enrolled. FVIII: C activity was measured by one-stage coagulation assay. FVIII inhibitor was screened by using APTT method and FVIII inhibitor in screened positive patients with HA was quantitatively analyzed by using Bethesda method. Using genomic DNA as template, 12, 14, 16 exons of FVIII in screened positive patients were amplified, and the mutations of amplified products were detected by direct sequencing. The results indicated that the FVIII inhibitor could be detected in 4 patients (6.9%) from 58 HA patients, no gene mutations in 12, 14, 16 exons of FVIII were found. It is concluded that the positive rate of FVIII inhibitor in HA patients is lower than that reported in literature. The causes of inhibitor production needs to further investigate.
authors.affiliation: Department of Hematology, Shanxi Medical University Second Hospital, Taigyuan, Shanxi Province, China.
authors.forename: Ao-Li
authors.initials: AL
authors.lastname: Zhang
authors.forename: Lin-Hua
authors.initials: LH
authors.lastname: Yang
authors.forename: Xiu-Er
authors.initials: XE
authors.lastname: Liu
authors.forename: Hua
authors.initials: H
authors.lastname: Zhao
authors.forename: Jian-Hua
authors.initials: JH
authors.lastname: Zhang
authors.forename: Chun-Xia
authors.initials: CX
authors.lastname: Dong
authors.forename: Xi-Lin
authors.initials: XL
authors.lastname: Qi
authors.forename: Xiu-Yu
authors.initials: XY
authors.lastname: Qin
mesh_terms: D000293:Adolescent; D000328:Adult; D019774:Blood Coagulation Factor Inhibitors / Q000302:isolation & purification*; D001780:Blood Coagulation Tests; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005169:Factor VIII / Q000037:antagonists & inhibitors* / Q000235:genetics; D005820:Genetic Testing; D006467:Hemophilia A / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008875:Middle Aged; D009154:Mutation; D055815:Young Adult
chemical_list: D019774:Blood Coagulation Factor Inhibitors; D005169:Factor VIII