What is Bernard-Soulier syndrome?
Bernard-Soulier syndrome is a bleeding disorder associated with abnormal platelets, which are blood cells involved in blood clotting. In affected individuals, platelets are unusually large and fewer in number than usual (a combination known as macrothrombocytopenia).
What is Glanzmann’s thrombasthenia?
Collapse Section. Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums.
What is GREY platelet syndrome?
Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are small blood cells involved in blood clotting. People with this condition tend to bruise easily and have an increased risk of nosebleeds (epistaxis).
Is platelet clumping hereditary?
Limited twin study data suggest that the platelet aggregation response to epinephrine21 and adrenergic receptor binding2223 are influenced by genetic factors. Specific genetic defects have been implicated in platelet receptor number and function.
What is the cause of giant platelets?
The giant platelets cause comes from a genetic abnormality. The gene responsible for the syndrome has been mapped to the short (p) arm of chromosome 17. If both parents carry the gene for Bernard-Soulier syndrome and transmit that gene to the child, the child will be born with the disorder.
How is thrombocytopenia inherited?
Inherited thrombocytopenia results from genetic mutations in genes implicated in megakaryocyte differentiation and/or platelet formation and clearance.
What causes abnormal platelet function?
Platelet function disorders can develop or be inherited. The most common reason for someone to develop a platelet function disorder is from taking medication. Medicines such as ibuprofen or aspirin can affect platelet function. People with some liver or kidney problems may develop a platelet function disorder.
How do you treat Bernard-Soulier syndrome?
There is no specific treatment for Bernard-Soulier syndrome. Patients should avoid any drugs which may interfere with clot formation, such as aspirin, ibuprofen, and naproxen. Severe bleeding episodes may require platelet and blood transfusions.
Why are large platelets in Bernard-Soulier?
The large platelets and low platelet count in BSS are seemingly due to the absence of GPIbα and the filamin A binding site that links the GPIb-IX-V complex to the platelet membrane skeleton.
What is the most common inherited vascular bleeding disorder?
Hemophilia is perhaps the most well-known inherited bleeding disorder, although it is relatively rare. It affects mostly males. Many more people are affected by von Willebrand disease, the most common inherited bleeding disorder in America caused by clotting proteins.
How is Bernard Soulier syndrome diagnosed?
The diagnosis of Bernard-Soulier syndrome is made by a combination of blood testing to reveal whether platelets are at abnormally low levels (thrombocytopenia), microscopic examination to determine the presence of abnormally large platelets and irregularly shaped platelets, and a test called ‘flow cytometry, which is …
What happened to Giovani Bernard?
“Giovani Bernard suffered right hip injury in the fourth quarter”. Cincy Jungle. Retrieved June 11, 2016. ^ “Giovani Bernard 2014 Game Log”. Pro-Football-Reference.com. Retrieved March 3, 2018. ^ “Ourlads.com: Cincinnati Bengal’s Depth Chart: 08/29/2015”. ourlads.com. Retrieved January 9, 2017.
What college did Giovani Bernard go to?
Player stats at NFL.com. Giovani Govan Bernard (born November 22, 1991) is an American football running back for the Cincinnati Bengals of the National Football League (NFL). He was drafted by the Bengals in the second round of the 2013 NFL Draft. He played college football at North Carolina.
What happened to Rashaad Bernard?
The following week, Bernard scored his third touchdown of the season and had 11 carries for 52 rushing yards and a touchdown in a 27-27 tie with the Washington Redskins. On November 20, 2016, Bernard suffered a torn ACL during a 16-12 loss to the Buffalo Bills and was placed on injured reserve, ending his season.
What was Giovani Bernard’s position in the 2013 NFL Draft?
Retrieved February 10, 2013. ^ “Giovani Bernard, DS #4 RB, North Carolina: 2013 NFL Draft”. nfldraftscout.com. Retrieved January 9, 2017. ^ “2013 NFL Draft Listing”. Pro-Football-Reference.com. Retrieved March 3, 2018. ^ “North Carolina RBs drafted in first two rounds”.