Inherited Qualitative Platelet Defects Bernard-Soulier Syndrome • Defect of adhesion due to a lack of GP Ib/IX/V [vWF receptor] • Thrombocytopenia, Large platelets on smear Glanzmann Thrombasthenia • Defect of aggregation due to a lack of GP IIb/IIIa [fibrinogen receptor] • Normal platelet count, Single isolated platelets without platelet clumping on smear MYH9-Related Disorder • Defect of cytoplasmic structure and cell mobility due to mutation in non-muscle myosin heavy chain IIA • Thrombocytopenia, Large platelets on smear, as well as granulocyte inclusions called Döhle-like bodies. May also present with sensorineural hearing loss, cataracts, and renal failure Grey Platelet Syndrome (an example of a storage pool deficiency) • Absence of platelet α-granules (contains vWF, factor V, and fibrinogen) • Thrombocytopenia, Large, grey colored platelets on smear, Associated with myelofibrosis and splenomegaly - Dr. Eric Strong @DrEricStrong - Strong Medicine https://www.youtube.com/c/EricsMedi #Inherited #Platelet #Defects #comparison #table #differential #diagnosis #hematology
