Table 1.

Reasons to suspect hereditary thrombocytopenia.

  1. Family history of thrombocytopenia, especially parent-child or maternal uncle-nephew

  2. Lack of platelet response to autoimmune thrombocytopenia (AITP) therapies including IVIG, IV anti-D, steroids, and splenectomy and also immune modulating treatments, e.g., azathioprine, rituximab

  3. Diagnostic features on smear such as abnormal size of platelets (small, large, or giant); absence of platelet alpha granules (gray platelets); Döhle-like bodies (MYH9); or microcytosis (XLT-T)

  4. Bleeding out of proportion to the platelet count

  5. Onset at birth

  6. Associated features such as absent radii, mental retardation, renal failure, high tone hearing loss, cataracts, or the development of leukemia

  7. Persistence of a stable level of thrombocytopenia for years

 

  1. Family history of thrombocytopenia, especially parent-child or maternal uncle-nephew

  2. Lack of platelet response to autoimmune thrombocytopenia (AITP) therapies including IVIG, IV anti-D, steroids, and splenectomy and also immune modulating treatments, e.g., azathioprine, rituximab

  3. Diagnostic features on smear such as abnormal size of platelets (small, large, or giant); absence of platelet alpha granules (gray platelets); Döhle-like bodies (MYH9); or microcytosis (XLT-T)

  4. Bleeding out of proportion to the platelet count

  5. Onset at birth

  6. Associated features such as absent radii, mental retardation, renal failure, high tone hearing loss, cataracts, or the development of leukemia

  7. Persistence of a stable level of thrombocytopenia for years

 
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