Identification of a shared F8 mutation in the Korean patients with acquired hemophilia A
Korean Journal of Hematology
; : 49-51, 2011.
Article
in English
| WPRIM (Western Pacific)
| ID: wpr-720120
Responsible library:
WPRO
ABSTRACT
Although uncommon, acquired hemophilia A (HA) is associated with a high rate of mortality due to severe bleeding. In spite of many hypotheses regarding the cause of acquired HA, there is as yet no established theory. In this study, we investigated the possibility that mutation(s) in the F8 gene may be correlated with the development of inhibitory autoantibodies. Direct sequencing analysis was performed on all 26 exons of the F8 gene of 2 patients exhibiting acquired HA. Both patients were found to share a common point mutation (c.8899G>A) in the 3'-untranslated region (3'-UTR) of exon 26. This is the first report on the genotyping of F8 in the context of acquired HA.
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Autoantibodies
/
Exons
/
Point Mutation
/
Hemophilia A
/
Hemorrhage
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Humans
Language:
English
Journal:
Korean Journal of Hematology
Year:
2011
Document type:
Article