Talking Glossary of Genetic Terms

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Donna Krasnewich, M.D., Ph.D. defines Hemophilia

Hemophilia

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Hemophilia is an inherited disease, most commonly affecting males, that is characterized by a deficiency in blood clotting. The responsible gene is located on the X chromosome, and since males inherit only one copy of the X chromosome, if that chromosome carries the mutated gene then they will have the disease. Females have a second, usually normal, copy of the gene on their other X chromosome, so they capable of passing on the disease without experiencing its symptoms.

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