Is it possible to have Hemophilia A AND B?
Posted in the Hemophilia Forum
#1 Feb 22, 2012
concerning my knowledge about h0emophilia, I'm some kind of newbie, but nevertheless I have to do a scientific work about it.
While working on the data of a British hospital, I was told that a doctor took care of a patient and diagnosed both hemophilia A and B within that guy.
The question I now have is: is this some sort of mistake, or is it really possible to obtain simultaneously both diseases?
Thanks a lot for your answers!
#2 May 3, 2012
It's certainly theoretically possible. The prevalence of Factor VIII deficiency (hemophilia A) is about 1 in 5 to 10 thousand live births (according to wikipedia), while Factor IX deficiency (hemophilia B) is around 1 in 20,000 to 30,000 live births. So naively both deficiencies should occur in about 1 in 100 million to 1 in 300 million live births.
However, in order to get the disease in a male, the male must have both defects on their X chromosone. Assuming the male didn't inherit the disease from his grandfather, the male would probably have inherited one of the diseases and had a spontaneous mutation for the other disease. About 1/3rd of people with hemophilia had a spontaneous mutation. This would tend to cut the expected rate of having both diseases in half.
There could be issues that would prevent both diseases from occurring in practice. E.g. if the diseases were caused by different mutations of a single gene, or if having both diseases greatly reduced the life expectancy of the child.
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