Identification of a shared F8 mutation in the Korean patients with acquired hemophilia A.
- Author:
Sung Ho HWANG
1
;
Jeong A LIM
;
Hugh Chul KIM
;
Hyun Woo LEE
;
Hye Sun KIM
Author Information
- Publication Type:Case Report
- Keywords: Haemophilia A; Mutation profiling; Sequence variation; Acquired haemophilia A
- MeSH: Autoantibodies; Exons; Hemophilia A; Hemorrhage; Humans; Point Mutation
- From:Korean Journal of Hematology 2011;46(1):49-51
- CountryRepublic of Korea
- Language:English
- 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.
