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A possible mechanism for Inv22‐related F8 large deletions in severe hemophilia A patients with high responding factor VIII inhibitors
Author(s) -
FUJITA J.,
MIYAWAKI Y.,
SUZUKI A.,
MAKI A.,
OKUYAMA E.,
MURATA M.,
TAKAGI A.,
MURATE T.,
SUZUKI N.,
MATSUSHITA T.,
SAITO H.,
KOJIMA T.
Publication year - 2012
Publication title -
journal of thrombosis and haemostasis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.947
H-Index - 178
eISSN - 1538-7836
pISSN - 1538-7933
DOI - 10.1111/j.1538-7836.2012.04897.x
Subject(s) - xq28 , gene , breakpoint , genetics , telomere , biology , chromosomal inversion , microbiology and biotechnology , x chromosome , karyotype , chromosomal translocation , chromosome
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 nucleotide level.