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  • The genes that contain the information for the cells to make the clotting factors 8 and 9 are located on the X chromosome
  • Women have two copies of the X chromosome (XX); those with a faulty clotting factor gene on one X chromosome and a working copy on the other partner X chromosome are genetic carriers for haemophilia and would not usually be affected
  • Males have only one X chromosome and a Y (XY); those with a faulty clotting factor gene on their X chromosome will have haemophilia as they have no working gene copy on the Y chromosome
  • For men and women to have the same amount of genetic information produced in their cells, one X chromosome copy is usually randomly 'switched off' or inactivated in a woman's cells. In about 10% of women who are genetic carriers for haemophilia, this 'switching off' system results in more of her cells containing the active X chromosome carrying the faulty clotting factor gene copy than the working copy, so she may be mildly affected with haemophilia
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