Inherited Qualitative Platelet Defects
Bernard-Soulier ...

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

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Contributed by

Dr. Gerald Diaz
Board Certified Internal Medicine Hospitalist, GrepMed Editor in Chief 🇵🇭 🇺🇸 - Sign up for an account to like, bookmark and upload images to contribute to our community platform. Follow us on IG: | Twitter:
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