Inherited Abnormalities of Platelet Production

Hematology Test
Condition Abnormality
May-Hegglin Severe thrombocytopenia
Wiskott-Aldrich Severe thrombocytopenia with small platelets
Congenital thrombopoietin deficiency Severe thrombocytopenia
Thrombocytopenia with absent radius Moderate thrombocytopenia
Thrombasthenia Absent clot retraction. Absent aggregation, mild thrombocytopenia
Bernard-Soulier Syndrome Giant platelets, absent aggregation
Platelet Storage pool disease Absent aggregation with collagen, mild thrombocytopenia, absent dense granules
Hermansky - Pudlak Syndrome Aggregation abnormal with epinephrine and collagen, decreased dense granules and absent ADP stores
Release reaction abnormalities Absent second wave aggregation with epinephrine and collagen, absent PF-3 release, varied inheritance.