MTHFR and Cbl Deficiency in Leukemia and Hematological Disorders
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Questions and Answers

What is the primary characteristic of megaloblastic anemia in terms of DNA synthesis?

  • Impaired DNA synthesis (correct)
  • Accelerated DNA degradation
  • Abnormal DNA repair
  • Increased DNA synthesis

    • What is the primary difference between megaloblastic and non-megaloblastic anemias?

  • Nuclear maturation defects (correct)
  • Shape of erythrocytes
  • Size of erythrocytes
  • Membrane lipid composition

    • Which of the following is a diagnostic test for megaloblastic anemia?

  • Erythrocyte sedimentation rate (ESR)
  • Reticulocyte count
  • Complete Blood Count (CBC)
  • Deoxyuridine suppression test (correct)

    • What is the role of vitamin B12 in megaloblastic anemia?

    <p>Essential for nuclear maturation</p> Signup and view all the answers

    Which of the following is a symptom of megaloblastic anemia?

    <p>Macrocytic erythrocytes</p> Signup and view all the answers

    What is the role of folate in cobalamin metabolism?

    <p>Folate enhances cobalamin absorption</p> Signup and view all the answers

    What is the association between MTHFR C677T and A1298C SNPs and the incidence of ALL?

    <p>A significant negative association</p> Signup and view all the answers

    What is a rare neurological manifestation of Cbl deficiency?

    <p>Degeneration of the anterior tracts of spinal cord</p> Signup and view all the answers

    What is the typical platelet count in megaloblastic anemia?

    <p>Moderately reduced, rarely less than 40 X10E9/L</p> Signup and view all the answers

    What is the definition of a hyper-segmented neutrophil in peripheral blood smear?

    <p>A cell with 6 lobes or 5% of cells with 5 lobes or 30% of cells with 4 lobes</p> Signup and view all the answers

    What is a distinguishing feature of megaloblastic anemia in blood smear?

    <p>Triad of oval macrocytes, Howell-Jolly bodies and hypersegmented neutrophils</p> Signup and view all the answers

    What is the role of folate in the form of 5,10-methyleneTHF polyglutamate in the process of DNA synthesis?

    <p>It is involved in the synthesis of thymidylate and purines</p> Signup and view all the answers

    What is a characteristic of anisocytosis in megaloblastic anemia?

    <p>Moderate to severe with few microcytes</p> Signup and view all the answers

    Which of the following is NOT a neurological disturbance associated with vitamin B12 deficiency?

    <p>Loss of appetite</p> Signup and view all the answers

    What is the oxidation state of the central cobalt atom in Cbl3+?

    <p>Most oxidized</p> Signup and view all the answers

    A patient presents with a raised MCV on routine CBC. What is the most likely diagnosis?

    <p>Folate deficiency</p> Signup and view all the answers

    What is the role of MTHFR in folate metabolism?

    <p>It reduces 5,10-methyleneTHF to 5-methylTHF</p> Signup and view all the answers

    What is the characteristic appearance of the tongue in megaloblastic anemia?

    <p>Beefy red and painful</p> Signup and view all the answers

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