It is an extremely rare coagulopathy bleeding disorder due to a blood abnormality, in which the platelets contain defective or low levels of glycoprotein iibiiia gpiibiiia, which is a receptor for fibrinogen. Adp gpiibiiia ristocetina gpib ac araquidonico metabolismo pgs control bernardsoulier trombopatia. Case a 19yearold arab descent female presented to emergency department with severe menorrhagia. Case report of glanzmann thrombasthenia medical student. Background glanzmann thrombasthenia gt is a rare inherited genetic platelet disorder characterized by a qualitative, or quantitative mutation in gpiibiiia receptor. Glanzmanns disease is a longterm disorder with no cure. Specifically, patients with gt have a missing or defective glycoprotein called glycoprotein iibiiia or gp 2b3a, which is in charge of making the platelets stick together through binding to fibrinogen clotting. As a result, no fibrinogen bridging of platelets to other platelets can occur, and the bleeding time is significantly. Until date, only close to 500 cases have been reported. Araquid adp 4 adp 2 asalike col spd i spd ii adp 4 adp 2. Glanzmann thrombasthenia is an autosomal recessive disorder caused by a quantitative or qualitative defect of the platelet gp complex iibiiia gpiibiiia, also known as the fibrinogen receptor or integrin. There are many dangers of continual bleeding such as chronic anemia, neurological or psychiatric problems, and possibly death, if enough.
Abstract glanzmann s thrombasthenia gt is a low frequency hematologic disease with an autosomal recessive inheritance pattern. Glanzmann s thrombasthenia gt is a genetic platelet surface receptor disorder of gpiibiiia itg. Glanzmann s thrombasthenia gt is a type of platelet function disorder, meaning the platelets arent working right. It it can occur as petechiae, epistaxis and gastrointestinal and gingival bleeding. Glanzmann thrombasthenia gt is a rare autosomal recessive bleeding disorder caused by lack or dysfunction of alphaiibbeta3 in platelets. Abstract glanzmanns thrombasthenia gt is a low frequency hematologic disease with an autosomal recessive inheritance pattern.
Glanzmann s thrombasthenia is an abnormality of the platelets. Renelevesque ouest bureau 1200 montreal, quebec h3g 1t7 canada telefono. Glanzmann thrombasthenia gt is a rare, autosomal recessive coagulopathy characterized by either qualitative or quantitative abnormalities of the membrane glycoprotein. Spontaneous mucocutaneous bleeding is common and can lead to fatal bleeding episodes. Eduard glanzmann trastorno plaquetario causado por.
Glanzmann en 1918 como tromboastenia hemorragica hereditaria. Mutations in either of the genes encoding gpiib or gpiiia can result in gt. Glanzmann s thrombasthenia is a rare, genetically inherited platelet disorder characterized by a lack of platelet aggregation. Gt is relatively frequent in highly inbred populations.
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