Quantitative Platelet Disorders at Silliman University
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Questions and Answers

What is the key characteristic of May-Hegglin Anomaly?

  • Thrombocytopenia during the first 2 years of age
  • Autosomal recessive disorder
  • Transient leukemoid reactions (WBC: >100,000/uL)
  • Large and misshapen platelets (20 um in diameter) (correct)
  • What is the underlying genetic cause of TAR syndrome?

  • Autosomal dominant disorder
  • Deletion or mutation in the RBM8A gene (correct)
  • Caused by decreased platelet production
  • Mutations in the MYH9 gene
  • Which of the following is NOT a characteristic of TAR syndrome?

  • Cardiac lesions
  • Thrombocytopenia during the first 2 years of age
  • Orthopedic abnormalities (radial bones and ulnae)
  • Large and misshapen platelets (correct)
  • What is the most common cause of thrombocytopenia?

    <p>Decreased platelet production</p> Signup and view all the answers

    What is the key difference between May-Hegglin Anomaly and TAR syndrome?

    <p>May-Hegglin is caused by MYH9 gene mutations, while TAR is caused by RBM8A gene mutations</p> Signup and view all the answers

    What is the primary mechanism behind thrombocytosis?

    <p>Myeloproliferative disorders</p> Signup and view all the answers

    Match the quantitative platelet disorder with its characteristic description:

    <p>May-Hegglin Anomaly = Large and misshapen platelets (20 um in diameter) TAR Syndrome = Thrombocytopenia during the first 2 years of age Reactive thrombocytosis = Increase in circulating platelets due to a reaction Myeloproliferative disorders = Group of disorders involving excess production of blood cells</p> Signup and view all the answers

    Match the type of thrombocytopenia with its category:

    <p>Congenital = May-Hegglin Anomaly Neonatal = TAR Syndrome Acquired = Asadi, Shahin study TAR Syndrome = RBM8A gene mutation or deletion (1q21.1)</p> Signup and view all the answers

    Match the genetic disorder with its genetic basis:

    <p>May-Hegglin Anomaly = Mutations in the MYH9 gene TAR Syndrome = RBM8A gene mutation or deletion (1q21.1) Myeloproliferative disorders = Unknown genetic basis Reactive thrombocytosis = Inflammatory response leading to increased platelets</p> Signup and view all the answers

    Match the disorder with its associated symptom:

    <p>May-Hegglin Anomaly = Dohle-like bodies in neutrophils and monocytes TAR Syndrome = Orthopedic abnormalities (radial bones and ulnae) Thrombocytopenia = Decrease in circulating platelets Thrombocytosis = Increase in circulating platelets</p> Signup and view all the answers

    Match the disorder with its age-related presentation:

    <p>May-Hegglin Anomaly = Can present at any age TAR Syndrome = Thrombocytopenia during the first 2 years of age Thrombocytosis = Common in older adults Myeloproliferative disorders = May manifest at any age</p> Signup and view all the answers

    Match the disorder with its related genetic characteristic:

    <p>May-Hegglin Anomaly = Abnormal plt size due to MYH9 gene mutations TAR Syndrome = &gt;100,000/uL WBC transient leukemoid reactions Thrombocytopenia = Autosomal recessive RBM8A gene mutation or deletion Thrombocytosis = Group of disorders involving excess production of blood cells</p> Signup and view all the answers

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