Hematopathology Practice Questions

Q: Which of the following is true regarding Chediak-Higashi syndrome?

Defect in phagocytosis. **Explanation:** **Chediak-Higashi Syndrome (CHS)** is a rare autosomal recessive disorder characterized by a defect in the **LYST gene** (Lysosomal Trafficking Regulator). This mutation leads to impaired microtubule formation and disordered intracellular trafficking of organelles. 1. **Why the correct answer is right:** The primary defect in CHS is the failure of **phagosome-lysosome fusion** [1]. While neutrophils can ingest bacteria, they cannot discharge lysosomal enzymes into the phagocytic vacuoles to kill them. This results in a profound **defect in phagocytosis** (specifically, intracellular killing). Morphologically, this is visualized as **giant peroxidase-positive granules** in neutrophils [1], which represent fused, dysfunctional lysosomes. 2. **Why the incorrect options are wrong:** * **Neutropenia:** While mild neutropenia can occur due to ineffective granulopoiesis in the bone marrow [1], the *hallmark* functional defect is the qualitative phagocytic failure, not a primary quantitative lack of cells. * **Agammaglobulinemia/IgA deficiency:** CHS is a defect of the innate immune system (phagocytes and NK cells). Humoral immunity (B-cells and antibody production) is generally intact, making these options incorrect. **High-Yield Clinical Pearls for NEET-PG:** * **Clinical Triad:** Partial oculocutaneous **albinism**, recurrent pyogenic infections (Staph/Strep), and progressive neurologic abnormalities [1]. * **Hematologic finding:** Giant lysosomal granules in leukocytes and platelets (causing mild bleeding tendencies) [1]. * **The "Accelerated Phase":** A dreaded complication involving a hemophagocytic lymphohistiocytosis (HLH)-like syndrome, often triggered by EBV. * **Diagnosis:** Peripheral blood smear showing giant granules [1]. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of the Immune System, pp. 245-246.

Q: Bone marrow findings in AL amyloidosis typically include:

Plasmacytosis. **Explanation:** **AL (Amyloid Light-chain) Amyloidosis** is a plasma cell dyscrasia characterized by the deposition of insoluble amyloid fibrils derived from monoclonal immunoglobulin light chains. 1. **Why Plasmacytosis is correct:** The underlying pathology in AL amyloidosis is a clonal proliferation of plasma cells in the bone marrow [1]. These abnormal plasma cells produce excess light chains (usually Lambda more than Kappa) that misfold and deposit in tissues [1]. While the plasma cell count is often low (typically <10%), it is the primary source of the amyloidogenic protein, making **plasmacytosis** the hallmark finding. In some cases, it may coexist with overt Multiple Myeloma. 2. **Why the other options are incorrect:** * **Granulomatous reaction:** This is characteristic of chronic inflammatory or infectious diseases (e.g., Tuberculosis, Sarcoidosis), not plasma cell disorders. * **Fibrosis:** While marrow fibrosis can be seen in Myelofibrosis or advanced Myeloma, it is not a defining or typical feature of AL amyloidosis. * **Giant cell formation:** This is associated with foreign body reactions or specific infections and is not a feature of the monoclonal protein production seen in amyloidosis. **High-Yield Clinical Pearls for NEET-PG:** * **Staining:** Amyloid shows **Apple-green birefringence** under polarized light when stained with **Congo Red**. * **Most Common Type:** AL amyloidosis is the most common form of systemic amyloidosis. * **Organ Involvement:** Macroglossia (enlarged tongue) and Periorbital ecchymosis ("Raccoon eyes") are highly suggestive clinical signs. * **Diagnosis:** While bone marrow shows plasmacytosis, the most sensitive site for biopsy to confirm amyloid deposition is **Abdominal Fat Pad aspiration** or rectal biopsy. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 616-618.

Q: The Ham test is used for the detection of which of the following?

GPI-linked protein defect. The Ham test (Acidified Serum Test) is a classic diagnostic tool for Paroxysmal Nocturnal Hemoglobinuria (PNH). PNH is an acquired clonal hematopoietic stem cell disorder caused by a mutation in the PIGA gene [1]. This mutation leads to a deficiency in Glycosylphosphatidylinositol (GPI) anchors, which are necessary to attach protective proteins like CD55 (Decay Accelerating Factor) and CD59 (MAC-inhibitory protein) to the red blood cell membrane [2]. Without these GPI-linked proteins, RBCs are hypersensitive to complement-mediated lysis [1]. In the Ham test, the patient's RBCs are placed in acidified serum; the acid activates the alternative complement pathway, leading to the lysis of the defective (GPI-deficient) cells. The tendency for red cells to lyse at night is explained by a slight decrease in blood pH during sleep, which increases the activity of complement [2]. Flow Cytometry is now the gold standard for PNH [2]. Triad of PNH: Hemolytic anemia, Pancytopenia, and Venous thrombosis [2]. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 601-602. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 650-651.

Q: Basophils are decreased in which of the following conditions?

Cushing's syndrome. **Explanation:** The correct answer is **Cushing’s syndrome**. **1. Why Cushing’s Syndrome is Correct:** Basopenia (a decrease in basophil count) is a characteristic finding in states of **hypercortisolism**, such as Cushing’s syndrome or exogenous steroid administration [1]. Glucocorticoids cause a redistribution of basophils from the peripheral blood into other compartments and inhibit their release from the bone marrow. Additionally, basopenia can be seen in acute stress (due to endogenous cortisol release), hyperthyroidism, and acute hypersensitivity reactions (where basophils degranulate and are sequestered in tissues). **2. Why the Other Options are Incorrect:** * **Polycythemia Vera:** This is a myeloproliferative neoplasm (MPN) characterized by the overproduction of all three cell lines (panmyelosis). Basophilia (increased basophils) is a common diagnostic clue in MPNs. * **Basophilic Leukemia:** This is a rare form of acute myeloid leukemia where primary proliferation consists of basophilic precursors, leading to a massive increase in basophil counts. * **Chronic Myeloid Leukemia (CML):** Basophilia is a hallmark of CML. In fact, a rising basophil count in a known CML patient is a significant clinical sign indicating **disease progression** toward the Accelerated Phase or Blast Crisis. **Clinical Pearls for NEET-PG:** * **Basophilia** is most commonly associated with Myeloproliferative Neoplasms (CML, Polycythemia Vera). * **Cushing’s Mnemonic:** Steroids cause an increase in "Neutrophils" but a decrease in "B.E.L." (**B**asophils, **E**osinophils, and **L**ymphocytes). * **High-Yield Fact:** Basophils contain coarse granules rich in **Heparin and Histamine**. Their membranes express **IgE receptors (FcεRI)**, playing a crucial role in Type I Hypersensitivity reactions. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Endocrine System, p. 1127.

Q: What is the minimum percentage of blasts in the peripheral blood or bone marrow required for the diagnosis of Acute Myeloid Leukemia?

20%. ### Explanation The diagnosis of **Acute Myeloid Leukemia (AML)** is primarily based on the quantification of myeloblasts in the bone marrow or peripheral blood. **1. Why 20% is the Correct Answer:** According to the **WHO Classification of Tumors of Haematopoietic and Lymphoid Tissues**, the threshold for diagnosing AML is a blast count of **≥20%**. This criterion distinguishes acute leukemia from Myelodysplastic Syndromes (MDS), where the blast count is typically lower [1]. * **Exception (High-Yield):** If specific genetic abnormalities are present—namely **t(8;21), inv(16), or t(15;17)**—the diagnosis of AML can be made even if the blast count is **less than 20%**. **2. Why Other Options are Incorrect:** * **A (8%) & B (15%):** These percentages fall within the range of **Myelodysplastic Syndromes (MDS)**. Specifically, MDS with excess blasts (MDS-EB-1) involves 5-9% blasts, and MDS-EB-2 involves 10-19% blasts [1]. * **D (25%):** Historically, the **FAB (French-American-British) classification** required a blast count of **≥30%** for a diagnosis of AML. The 25% mark is an arbitrary number that does not align with current or historical diagnostic thresholds. **3. Clinical Pearls for NEET-PG:** * **Auer Rods:** Their presence in blasts is pathognomonic for myeloid lineage (AML), even if the blast count is low. * **MPO (Myeloperoxidase):** The most specific histochemical stain for AML. * **Flow Cytometry:** Essential for lineage markers; **CD33 and CD13** are common pan-myeloid markers. * **Pure Erythroid Leukemia:** A rare subtype where blasts are ≥80% of the marrow cells. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 613-614.

Question 1

Which of the following is true regarding Chediak-Higashi syndrome?

Accepted Answer

Defect in phagocytosis

Answer

Neutropenia

Answer

Agammaglobulinemia

Answer

IgA deficiency

Question 2

Bone marrow findings in AL amyloidosis typically include:

Accepted Answer

Plasmacytosis

Answer

Granulomatous reaction

Answer

Fibrosis

Answer

Giant cell formation

Question 3

Bernad-Soulier syndrome is a defect in platelet?

Accepted Answer

Adhesion

Answer

Aggregation

Answer

Morphology

Answer

Release reaction

Question 4

The Ham test is used for the detection of which of the following?

Accepted Answer

GPI-linked protein defect

Answer

Ankyrin defect

Answer

Spectrin defect

Answer

Mannose binding protein defect

Question 5

In Beta thalassemia, what is the typical alteration in globin chain production?

Accepted Answer

Decrease in beta chain, increase in alpha chain

Answer

Increase in beta chain, decrease in alpha chain

Answer

Decrease in beta chain, decrease in alpha chain

Answer

Increase in beta chain, increase in alpha chain

Question 6

Schilling test is done for which condition?

Accepted Answer

Vitamin B12 deficiency

Answer

Folic acid deficiency

Answer

Vitamin B6 deficiency

Answer

Vitamin D deficiency

Question 7

A child died soon after birth. On examination, there was hepatosplenomegaly and edema all over the body. What is the most probable diagnosis?

Accepted Answer

alpha-thalassemia

Answer

beta-thalassemia

Answer

hereditary spherocytosis

Answer

ABO incompatibility

Question 8

Basophils are decreased in which of the following conditions?

Accepted Answer

Cushing's syndrome

Answer

Polycythemia

Answer

Basophilic leukemia

Answer

Chronic myeloid leukemia (CML)

Question 9

A 32-year-old man has mild anemia diagnosed on routine testing. His clinical examination is normal, and a blood film reveals some target cells with some red cells having intraerythrocytic crystals. For the above patient with a hemoglobin abnormality, select the most likely diagnosis?

Accepted Answer

HbC disease

Answer

beta-thalassemia major

Answer

HbH disease

Answer

sickle cell disease

Question 10

What is the minimum percentage of blasts in the peripheral blood or bone marrow required for the diagnosis of Acute Myeloid Leukemia?

Accepted Answer

20%

Answer

8%

Answer

15%

Answer

25%

Hematopathology — MCQs

Hematopathology — MCQs

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