12 Questions
What is the key characteristic of May-Hegglin Anomaly?
Large and misshapen platelets (20 um in diameter)
What is the underlying genetic cause of TAR syndrome?
Deletion or mutation in the RBM8A gene
Which of the following is NOT a characteristic of TAR syndrome?
Large and misshapen platelets
What is the most common cause of thrombocytopenia?
Decreased platelet production
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
What is the primary mechanism behind thrombocytosis?
Myeloproliferative disorders
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
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)
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
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
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
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
This quiz covers topics related to quantitative platelet disorders such as thrombocytopenia and thrombocytosis. It discusses the causes and classifications of platelet disorders, including issues with platelet production and rare genetic anomalies.
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