Platelet-Type Bleeding Disorder 16
Autosomal dominant
Caused by specific changes in one copy of ITGA2B or ITGB3 that leave the platelet integrin αIIbβ3 partly switched on, which disrupts platelet formation. Changes in both copies of these genes cause a different, more severe condition, Glanzmann thrombasthenia.
Signs and symptoms
A low platelet count with large platelets, which can be found on routine blood tests. Bleeding may be absent or mild, such as easy bruising, nosebleeds or heavy periods. Bleeding after surgery, dental work or childbirth can also occur.
What a diagnosis changes
A haematology review before surgery, dental procedures or childbirth helps plan care; tranexamic acid or platelet transfusion may be used for bleeding. Medicines that affect platelets, such as aspirin, may be avoided. Each child of an affected person has a 50% chance of inheriting the change, so family testing is useful.
Also known as
BDPLT16; bleeding disorder, platelet-type, 16, autosomal dominant
