• By Dana Sparks

Science Saturday: Genetic test solves mystery of family bleeding disorder

May 4, 2019

The Riggs family had a bleeding disorder that spanned three generations and affected the health of multiple family members. They never knew the cause of it, the long term risks associated with it, or the impact it may have on future generations — until a genetic test revealed the answer.

Finding the clues to the mystery of the family bleeding disorder began when Mallory’s father, Timothy, came to Mayo Clinic for cardiovascular surgery. Before surgery he met with Mrinal Patnaik, M.B.B.S., a Mayo Clinic hematologist, specializing in the diagnosis, treatment and prevention of blood diseases.

“I looked at his medical records and it didn’t make sense,” says Dr. Patnaik. “I told him we didn’t know what exactly he had but the fact that three generations in his family all have abnormally low blood platelets makes this very likely to be something inheritable.” Read the rest of their story on the Individualized Medicine Blog.
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