A 53-year-old member asked:
Could hemophilia occur due to a mutation?
1 doctor answer
Dr. Robert Kwok answered
32 years experience in Pediatrics
Yes, a gene mutation: Hemophilia "A" is a hereditary bleeding disorder where there is a deficiency in clotting factor VIII (factor VIII is needed for blood clotting). It is inherited on the X-chromosome (sex-linked). Men only have 1 "X", so if their "X" is mutated, they will have the disease. Women have 2 "X's", so they can have 1 mutated "X" and 1 normal "X", and be a carrier of the disease, with mild or no symptoms.
Answered on Mar 21, 2018
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