Korean J Hematol.  2011 Mar;46(1):49-51. 10.5045/kjh.2011.46.1.49.

Identification of a shared F8 mutation in the Korean patients with acquired hemophilia A

• Hwang SH
• Lim JA
• Kim HC
• Lee HW
• Kim HS

• KMID: 2252020
• DOI: http://doi.org/10.5045/kjh.2011.46.1.49

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.

Keyword

Haemophilia A; Mutation profiling; Sequence variation; Acquired haemophilia A

MeSH Terms

Autoantibodies
Exons
Hemophilia A
Hemorrhage
Humans
Point Mutation
Autoantibodies

Figure

• 

  Fig. 1 F8 mutation in acquired hemophilia A. Genomic DNA was purified from 2 patients and sequences were analyzed by direct sequencing of all 26 exons using 35 synthesized primers. AMC-HA51 and AMC-HA52 indicate the patient ID. Mismatch site, c.8899G>A, located in the 3'-UTR region of exon 26, was identified using primer 33. F8-ref refers to a wild-type F8 gene sequence (accession no. NM_000132.3), which was utilized as the reference gene.

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