0
A 2 2 -year-old male patien t presents with recu rrent epistaxis and a history of pro-longed bleeding after m i nor cuts. At age LJ, he had a splenectomy due to presumed immune th rombocytopenia. He is referred to hematology for evaluation of thrombo-cytopenia. His platelet count is LJ7 .000/ JLL. Hemoglobin and leukocyte coun ts are normal. A peripheral blood smear is shown below.
What is the underlying defect in Bernard-Soulier syndrome?
- GATAl mutation
- 3p2l/NBEAL2 mutation
- GPIIb/IIIa defect
- GP lb/IX/V defect
- Thrombospondin deficiency
Medicine
D. BSS is caused by the absence of the GPlb/IX/V receptor complex on the surface of plate-lets, which is a critical receptor complex in hemostasis and thrombosis. This complex is the receptor for von Wille brand factor (vWF), and such defects result in deficient binding of vWF to the platelet membrane causing defective platelet adhesion. GATAl mutations have been described in patients with an x-linked disorder who have thrombocytopenia and red cell abnormalities. NBEAL2 mutation has been noted in patients with the gray platelet syndrome. GPIIb/IIIa is a receptor target used in the treat-ment of coronary artery disease.
need an explanation for this answer? contact us directly to get an explanation for this answer