Intracranial Bleeding in a Female Hemophilia Patient: Molecular Analysis of the Factor 8 Gene and Determination of a Novel Mutation

References (4)

1. Knobe KE, Sjörin MJ, Soller MJ,Liljebjörn H, Ljung RCA. Female hemophilia A: two unusual cases caused by skewed inactivation. Haemophilia 2008;14:846-848.
2. Renault NK, Dyack S, Dobson MJ, Costa T, Lam WL, Greer WL. Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females. Eur J Hum Genet 2007;15:628-637.
3. Chuansumrit A, Sasanakul W, Goodeve A, Treratvirapong T, Parinayok R, Pintadit P, Hathirat P. Inversion of intron 22 of the factor VIII gene in a girl with severe hemophilia A and Turner’s syndrome. Thromb Haemost 1999;82:1379. David D, Morais S, Ventura C, Campos M. Female haemophiliac homozygous for factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the FVIII alleles. Haemophilia 2003;9:125-130.
4. Pavlova A, Brondke H, Müsebeck J, Pollmann H, Srivastava A, Oldenburg J. Molecular mechanisms underlying hemophilia A phenotype in seven females. J Thromb Haemost 2009;7:976-982.