Patients with either hereditary or acquired platelet disorders usually have bleeding diathesis, which can potentially be life threatening. A reliable laboratory diagnosis of a platelet disorder can significantly impact patients' and, potentially, their family members' clinical management and outcome.
Platelet (P) transmission electron microscopy (TEM) has been an essential tool for laboratory diagnosis of various hereditary platelet disorders since it was first used to visualize fibrin-platelet clot formation in 1955. PTEM employs 2 main methods to visualize platelet ultrastructure, whole mount (WM) TEM and thin section (TS) TEM.
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WM-TEM is considered the gold standard test for diagnosing dense granule deficiencies in Hermansky-Pudlak syndrome, alpha-delta platelet storage pool deficiency, Paris-Trousseus-Jacobsen syndrome, Wiskott-Aldrich syndrome, TAR (thrombocytopenia, absent radii) syndrome, Chediak-Higashi syndrome, and more.
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Platelet disorders that can be detected by PTEM include (but are not limited to):
Delta granules (dense bodies):
-Hermansky Pudlak syndrome
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-Wiskott-Aldrich syndrome
-Chediak Higashi syndrome
-Jacobson/Paris Trousseau syndrome
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-York platelet syndrome
-Storage pool deficiency, not otherwise specified
Alpha granules:
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-White platelet syndrome
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-X-linked GATA 1 mutation
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-Jacobson/Paris Trousseau syndrome
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Alpha and delta granules:
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-Alpha-delta storage pool deficiency