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Article

A possible mechanism for Inv22-related F8 large deletions in severe hemophilia A patients with high responding factor VIII inhibitors.

Journal of thrombosis and haemostasis : JTH - 1 Oct 2012

Fujita J, Miyawaki Y, Suzuki A, Maki A, Okuyama E, Murata M, Takagi A, Murate T, Suzuki N, Matsushita T, Saito H, Kojima T

Abstract excerpt

BACKGROUND: Intron 22 inversion (Inv22) of the coagulation factor (F)VIII gene (F8) is a frequent cause of severe hemophilia A. In addition to Inv22, a variety of F8 mutations (1492 unique mutations) causing hemophilia A have been reported, of which 171 involve deletions of over 50 bp (HAMSTeRs database; http://hadb.org.uk/). However, only 10% of these large deletions have been fully characterized at the...

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Identifiers

PMID: 22906111
DOI: 10.1111/j.1538-7836.2012.04897.x

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