Bernard Soulier Syndrome Essay

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Bernard-Soulier syndrome is an inherited platelet disorder caused by a defect in a gene responsible for a receptor that aids platelets in adhering to the lining of injured blood vessels. This disorder is characterized by thrombocytopenia and large nonfunctional platelets (Pham,2007). Patients often present initially with bleeding symptoms such as purpua, epistaxis, ecchymosis, bleeding of the gums, and menorrhagia (Lanza,2006). Diagnosis is further confirmed by platelet aggregation studies and flow cytometry. Treatment is mainly supportive, such as, the use of DDAVP to shorten bleeding times, with more serious hemorrhages being treated with platelet transfusions. Prognosis of this disease is fairly good with proper education and adequate care (Pham,2007).

Bernard-Soulier syndrome is an inherited bleeding disorder discovered in 1948 by two French hematologists, Jean Bernard and Jean-Pierre Soulier (Lanza,2006). They wrote an article describing a young boy who had experienced a severe bleeding disorder since birth. They noted that his platelets were decreased in number, larger than normal, and lacked the ability to adhere to blood vessel walls (Lanza,2006). This resulted in a prolonged bleeding time. The hematologists named the disorder "Dystrophie thrombocytaire-hémorragipare congénitale" (Hemorrhagiparous thrombocytic
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An abnormal gene transmitted as an autosomal recessive trait from parent to child causes this syndrome. Both parents must be carriers of the gene to produce a child that inherits two defective genes (Lanza,2006). Children that inherit only one of the abnormal genes will be a carrier and unlikely to exhibit symptoms of the disease. The gene with this defect is on a chromosome that is not a determinant in the sex of the child, and therefore BSS can affect both males and females equally

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