This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Bleeding disorder due to P2RY12 defect affects the way the platelets function. Platelets are important for helping the blood to clot. Symptoms of a bleeding disorder due to P2RY12 defect include frequent nose bleeds, easy bruising, and excessive bleeding after surgery or an accident. These symptoms can vary from person to person. This condition is very rare and it’s not clear how it changes over time. Bleeding disorder due to a P2RY12 defect occur due to a variant in the P2RY12 gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, and the results of specialized laboratory testing. Treatment is focused on managing the symptoms, and may involve blood transfusions, and/or medications that help the blood clot.
For more information, visit GARD.