Quantitative Platelet Disorders at Silliman University

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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?

Decreased platelet production (D) Signup and view all the answers

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

May-Hegglin is caused by MYH9 gene mutations, while TAR is caused by RBM8A gene mutations (D) Signup and view all the answers

What is the primary mechanism behind thrombocytosis?

Myeloproliferative disorders (A) Signup and view all the answers

Match the quantitative platelet disorder with its characteristic description:

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 Signup and view all the answers

Match the type of thrombocytopenia with its category:

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

Match the genetic disorder with its genetic basis:

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 Signup and view all the answers

Match the disorder with its associated symptom:

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 Signup and view all the answers

Match the disorder with its age-related presentation:

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 Signup and view all the answers

Match the disorder with its related genetic characteristic:

May-Hegglin Anomaly = Abnormal plt size due to MYH9 gene mutations TAR Syndrome = >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 Signup and view all the answers