Glanzmann Thrombasthenia
Glanzmann Thrombasthenia (INS)
General description
Glanzmann thrombasthenia (GT) is a congenital blood clotting disorder in which the function of blood platelets (thrombocytes) is severely impaired. A variant in the ITGA2B gene prevents the formation of a major component of a glycoprotein (αIIbβ3) found in the cell membrane of blood platelets. This is important for platelet aggregation during blood clotting. Symptoms include bleeding into the skin, lungs, or bladder, as well as bleeding gums or persistent nosebleeds. This can lead to anemia, which may be accompanied by symptoms such as labored or rapid breathing (tachypnea), rapid fatigue, and pale mucous membranes. The first signs usually appear at around 6 months of age.
Breeds
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Order details
| Test number | Included only in LABOGeneticsXXL – Cat |
Test specifications
| Inheritance | autosomal-recessive |
| Gene | ITGA2B |
| Mutation | INS |
| Literature | OMIA:001000-9685 |
Glanzmann Thrombasthenia (P662fs)
General description
Glanzmann thrombasthenia (GT) is a congenital blood clotting disorder in which platelet function is severely impaired. A variant in the ITGA2B gene prevents the formation of a major component of a glycoprotein (αIIbβ3) found in the platelet cell membrane. This is important for platelet aggregation during blood clotting. Symptoms include bleeding into the skin, lungs, or bladder, as well as bleeding gums or persistent nosebleeds. This can lead to anemia, which may be accompanied by symptoms such as labored or rapid breathing (tachypnea), rapid fatigue, and pale mucous membranes. The first signs usually appear at around 6 months of age.
Breeds
–
Order details
| Test number | Included only in LABOGeneticsXXL – Cat |
Test specifications
| Inheritance | autosomal-recessive |
| Gene | ITGA2B |
| Mutation | DEL |
| Literature | OMIA:001000-9685 |
