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What type of mutations that cause hemophilia a?

2 doctors weighed in
Dr. Robert Kwok
Pediatrics
1 doctor agrees

In brief: Gene on X-chromosome

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.

In brief: Gene on X-chromosome

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.
Dr. Robert Kwok
Dr. Robert Kwok
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