Inherited Abnormalities of Platelet Production

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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. |
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