Table 2.

Classification schemes for hereditary thrombocytopenias.

  • Location of molecular defect, i.e., can the diagnosis be confirmed as an MYH9 defect?

  • Mechanism of thrombocytopenia: poor production or accelerated destruction

  • Mode of inheritance: autosomal dominant or X-linked

  • Platelet size on smear: very large, normal, or small; other findings, e.g., microcytosis of RBC, Döhle-like bodies in neutrophils

  • Associated features including clinical and laboratory findings:

    1. findings on exam or by history, e.g., absent radii, renal
 failure, hearing loss

    2. laboratory abnormalities, e.g., flow cytometry for platelet glycoprotein expression, platelet function testing, assessment of the von Willebrand factor multimer composition

 
  • Location of molecular defect, i.e., can the diagnosis be confirmed as an MYH9 defect?

  • Mechanism of thrombocytopenia: poor production or accelerated destruction

  • Mode of inheritance: autosomal dominant or X-linked

  • Platelet size on smear: very large, normal, or small; other findings, e.g., microcytosis of RBC, Döhle-like bodies in neutrophils

  • Associated features including clinical and laboratory findings:

    1. findings on exam or by history, e.g., absent radii, renal
 failure, hearing loss

    2. laboratory abnormalities, e.g., flow cytometry for platelet glycoprotein expression, platelet function testing, assessment of the von Willebrand factor multimer composition

 

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