Thelansis

  Glanzmann Thrombasthenia is a genetic bleeding disorder caused by mutations in the ITGA2B or ITGB3 gene. The disorder results in quantitative and qualitative abnormalities of the integrin alphaIIb/beta3 (αIIbβ3) receptor protein necessary for platelet aggregation and clot formation. The deficiency or dysfunction of αIIbβ3 leads to the inability of platelets to bind together and form clots, causing moderate to severe bleeding. The disorder has been classified into three types based on the availability of αIIbβ3. Type I is the most common, with less than 5% of normal αIIbβ3 levels. Type II has 5-20% of normal levels, and the variant type has adequate levels but only nonfunctional αIIbβ3. In some cases, the cause of the disorder is unknown. The diagnostic features of Glanzmann Thrombasthenia include the absence of platelet aggregation and recurring episodes of mucocutaneous and spontaneous bleeding. Purpura, epistaxis, and gingival bleeding are common manifestations, and RBC trans...

Glanzmann Thrombasthenia (GT) is a genetic bleeding disorder caused by mutations in the ITGA2B or ITGB3 gene. The disorder results in quantitative and qualitative abnormalities of the integrin alphaIIb/beta3 (αIIbβ3) receptor protein, which is necessary for platelet aggregation and clot formation. The deficiency or dysfunction of αIIbβ3 leads to the inability of platelets to bind together and form clots, causing moderate to severe bleeding. The disorder has been classified into three types based on the availability of αIIbβ3. Type I is the most common, with less than 5% of normal αIIbβ3 levels. Type II has 5-20% of normal levels, and the variant type has adequate levels but only nonfunctional αIIbβ3. In some cases, the cause of the disorder is unknown. The diagnostic features of Glanzmann Thrombasthenia include the absence of platelet aggregation and recurring episodes of mucocutaneous and spontaneous bleeding. Purpura, epistaxis, and gingival bleeding are common manifestations, and re...