Bernard-Soulier syndrome - Genetics Home Reference

Bernard-Soulier syndrome - Genetics Home Reference

Genetics Home Reference: Bernard-Soulier syndrome 06/28/2016 11:30 PM EDT Source: National Library of Medicine Related MedlinePlus Pages: Bleeding Disorders, Platelet Disorders

Bernard-Soulier syndrome

Bernard-Soulier syndrome is a bleeding disorder associated with abnormal platelets, which are blood cell fragments involved in blood clotting. In affected individuals, platelets are unusually large and fewer in number than usual (a combination known as macrothrombocytopenia). People withBernard-Soulier syndrome tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or prolonged bleeding following minor injury or surgery or even without trauma (spontaneous bleeding). In some affected individuals, bleeding under the skin causes tiny red or purple spots on the skin called petechiae. Women withBernard-Soulier syndrome often have heavy or prolonged menstrual periods (menorrhagia).

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