Quantitative Platelet Disorders in Clinical Laboratory Sciences
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Questions and Answers

What is the characteristic feature of May-Hegglin Anomaly?

  • Large and misshapen platelets (correct)
  • Autosomal recessive disorder
  • Transient leukemoid reactions
  • Orthopedic abnormalities

    • What is the genetic cause of TAR syndrome?

  • Autosomal dominant disorder
  • Congenital thrombocytopenia
  • Mutation or deletion in the RBM8A gene (correct)
  • Mutation in the MYH9 gene

    • Which of the following is NOT a characteristic feature of TAR syndrome?

  • Orthopedic abnormalities
  • Cardiac lesions
  • Thrombocytopenia during the first 2 years of age
  • Large and misshapen platelets (correct)

    • What is the difference between thrombocytopenia and thrombocytosis?

    <p>Thrombocytopenia is a decrease in circulating platelets, while thrombocytosis is an increase.</p> Signup and view all the answers

    What is the normal range of platelet count?

    <p>Between 150,000/uL and 450,000/uL</p> Signup and view all the answers

    Which of the following is a cause of acquired thrombocytopenia?

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

    Which of the following statements regarding May-Hegglin Anomaly is correct?

    <p>It is caused by mutations in the MYH9 gene, which codes for non-muscle myosin heavy chain.</p> Signup and view all the answers

    Which of the following statements about TAR syndrome is incorrect?

    <p>It is characterized by the presence of Dohle-like bodies in neutrophils and monocytes.</p> Signup and view all the answers

    In a patient with thrombocytopenia due to decreased platelet production, which of the following genetic disorders would be the least likely cause?

    <p>Wiskott-Aldrich Syndrome</p> Signup and view all the answers

    Which of the following statements regarding the pathogenesis of TAR syndrome is correct?

    <p>It is caused by mutations in the RBM8A gene, which is involved in pre-mRNA splicing and regulation of gene expression.</p> Signup and view all the answers

    Which of the following statements regarding the inheritance pattern of May-Hegglin Anomaly and TAR syndrome is correct?

    <p>May-Hegglin Anomaly is an autosomal dominant disorder, while TAR syndrome is an autosomal recessive disorder.</p> Signup and view all the answers

    In a patient with May-Hegglin Anomaly, which of the following laboratory findings would be expected?

    <p>Decreased platelet count with large, misshapen platelets and the presence of Dohle-like bodies in neutrophils and monocytes</p> Signup and view all the answers

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