A member asked:

What type of mutations that cause hemophilia a?

3 doctors weighed in across 2 answers

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.

Answered 8/17/2012

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Many: In one study of 200 affected genes, seven different mutations were demonstrated. Four of them were transpositions of single bases, of which three transformed a codon for arginine into a stop codon, the fourth mutation resulted in substitution of a single amino acid and mild hemophilia. The other 3 mutations involved deletion of several thousand nucleotides and produced severe hemophilia.

Answered 11/4/2018

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