Quantitative Platelet Disorders in Clinical Laboratory Sciences

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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?

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

What is the normal range of platelet count?

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

Which of the following is a cause of acquired thrombocytopenia?

Myeloproliferative disorders Signup and view all the answers

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

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

Which of the following statements about TAR syndrome is incorrect?

It is characterized by the presence of Dohle-like bodies in neutrophils and monocytes. 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?

Wiskott-Aldrich Syndrome Signup and view all the answers

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

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

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

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

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

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