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HAEMOPHILIA A is a mutationally heterogeneous coagulation disorder caused by defects in the large and complex coagulation factor VIII (FVIII) gene. It has been recorded in human beings and various animal species including dogs (Antonarakis 1995, Hough and others 2002, Oldenburg and El-Maarri 2006). The bleeding predisposition associated with haemophilia A results from a deficiency or dysfunction of FVIII, with the severity depending on the amount of residual FVIII activity.
The human gene for FVIII is located on the X chromosome (Xq28) and the gene spans 186 kb across 26 exons, coding for approximately 9 kb mRNA. More than 40 per cent of all cases of severe haemophilia A in human beings are caused by gross rearrangements of the FVIII gene. In addition, sequence deletions, insertions and several hundred single-base substitutions or point mutations have been described of which approximately 100 lead …