Hematopathology Practice Questions

Q: Which of the following is NOT true about Fanconi's anemia?

Bone marrow hyperplasia. **Explanation:** Fanconi’s Anemia (FA) is a rare, autosomal recessive (primarily) genetic disorder characterized by genomic instability. The correct answer is **Option B** because Fanconi’s anemia leads to **bone marrow hypoplasia (aplasia)**, not hyperplasia. 1. **Why Option B is correct:** FA is the most common cause of inherited **Aplastic Anemia**. The genetic defect leads to a progressive depletion of hematopoietic stem cells, resulting in pancytopenia. Therefore, the bone marrow appears hypocellular (fatty replacement) rather than hyperplastic. 2. **Why Option A is incorrect:** FA is fundamentally a **DNA repair defect**. It involves mutations in the FANC gene family, which are responsible for repairing DNA interstrand cross-links. 3. **Why Option C is incorrect:** Approximately 75% of patients have **congenital anomalies**. Classic signs include radial ray defects (absent/hypoplastic thumb or radius), short stature, microcephaly, and café-au-lait spots. 4. **Why Option D is incorrect:** Due to chromosomal instability, there is a significantly **increased risk of malignancies**, particularly Acute Myeloid Leukemia (AML) and squamous cell carcinomas (head, neck, and anogenital). **High-Yield Clinical Pearls for NEET-PG:** * **Diagnostic Test:** Chromosomal breakage study using **Diepoxybutane (DEB)** or Mitomycin C (MMC). Cells show increased chromatid breaks. * **Physical Exam Triad:** Short stature + Thumb/Radial defects + Skin hyperpigmentation. * **Treatment:** Bone marrow transplant is the definitive treatment for hematologic complications.

Q: An infant presents with bony pain and dermatitis on the scalp. Skull X-ray and electron microscopy of a biopsy from a lesion are provided. What is the most probable diagnosis?

Langerhans cell histiocytosis. ***Langerhans cell histiocytosis*** - **Classic triad** in infants includes **bony lytic lesions**, **scalp dermatitis**, and **diabetes insipidus**, with skull X-ray showing characteristic **punched-out lesions**. - Electron microscopy reveals pathognomonic **Birbeck granules** (tennis racket-shaped organelles) within Langerhans cells, confirming the diagnosis. *Multiple myeloma* - Primarily affects **adults over 60 years**, making it extremely rare in infants and children. - Presents with **hypercalcemia**, **renal dysfunction**, and **anemia** rather than scalp dermatitis. *Thalassemia* - Characterized by **hemolytic anemia**, **splenomegaly**, and **growth retardation** due to defective hemoglobin synthesis. - Does not cause **lytic bone lesions** or **dermatitis**; instead shows **extramedullary hematopoiesis**. *Acute myeloid leukemia* - Presents with **pancytopenia**, **bleeding**, and **infections** due to bone marrow infiltration by malignant cells. - Does not typically cause **punched-out skull lesions** or **scalp dermatitis** seen in this case.

Q: Which of the following is not a cause of secondary polycythemia?

Myeloproliferative changes. Polycythemia is classified into **Primary** and **Secondary** types based on the serum Erythropoietin (EPO) levels and the underlying trigger for red cell production. **1. Why "Myeloproliferative changes" is the correct answer:** Myeloproliferative changes, specifically **Polycythemia Vera (PV)**, represent **Primary Polycythemia**. In PV, there is an autonomous, neoplastic proliferation of erythroid precursors in the bone marrow, usually due to a mutation in the **JAK2 gene** [1]. Because the production is independent of external stimuli, **serum EPO levels are characteristically low**. **2. Why the other options are incorrect (Causes of Secondary Polycythemia):** Secondary polycythemia occurs when red cell production is driven by **elevated EPO levels**. * **High Altitude (Option A):** Chronic hypoxia at high altitudes triggers the kidneys to release more EPO (physiologic compensation) to increase oxygen-carrying capacity [1]. * **Pheochromocytoma (Option C) & Cerebellar Hemangioblastoma (Option D):** These are classic examples of **inappropriate EPO secretion**. Certain tumors (including Renal Cell Carcinoma and Hepatocellular Carcinoma) ectopically produce EPO, leading to increased erythropoiesis. **Clinical Pearls for NEET-PG:** * **JAK2 V617F Mutation:** Present in >95% of Polycythemia Vera cases [1]. * **Diagnostic Clue:** If a patient has a high hematocrit and **low EPO**, think Primary (PV). If **high EPO**, think Secondary (Hypoxia or Tumor). * **Hyperviscosity:** Both types can present with headache, dizziness, and thrombosis, but **aquagenic pruritus** (itching after a hot bath) and **splenomegaly** are highly suggestive of Polycythemia Vera [1]. * **Rule of 4 (Tumors causing Secondary Polycythemia):** Renal Cell Carcinoma, Hepatoma, Cerebellar Hemangioblastoma, and Uterine Fibroids (and Pheochromocytoma).

Q: What is the best marker for iron deficiency?

Serum ferritin. **Explanation:** **Serum ferritin** is considered the most reliable and sensitive biochemical marker for diagnosing iron deficiency. Ferritin is the primary intracellular storage protein for iron. Since serum ferritin levels are directly proportional to total body iron stores, a low level is highly specific for iron deficiency anemia (IDA), often decreasing before changes in hemoglobin or red cell morphology occur. [1] **Analysis of Incorrect Options:** * **Serum Iron:** This measures the amount of iron circulating in the blood bound to transferrin. It is a poor marker because it fluctuates significantly throughout the day (diurnal variation) and can be affected by recent dietary intake or infection. * **Total Iron Binding Capacity (TIBC):** This measures the blood's capacity to bind iron with transferrin. While TIBC increases in iron deficiency, it is an indirect measure and can be influenced by liver function and nutritional status (e.g., pregnancy or oral contraceptives). * **Transferrin Saturation:** This is the ratio of serum iron to TIBC. While it decreases in IDA, it is less sensitive than ferritin because it relies on serum iron levels, which are inherently unstable. **NEET-PG High-Yield Pearls:** * **Gold Standard:** While serum ferritin is the best *non-invasive* test, the absolute gold standard for assessing iron stores is a **Bone Marrow Aspiration** (Prussian Blue staining), though it is rarely performed for simple IDA. * **The "Acute Phase" Caveat:** Ferritin is an **acute-phase reactant**. In the presence of inflammation, malignancy, or liver disease, ferritin levels may be falsely elevated even if the patient is iron deficient. * **Early Marker:** The very first biochemical change in developing iron deficiency is a **decrease in serum ferritin**. [1]

Question 1

Which of the following statements about stored blood is false?

Accepted Answer

It is a good source of platelets.

Answer

It can be stored for up to 40 days.

Answer

Potassium levels increase during storage.

Answer

Factors V and VIII are deficient in stored blood.

Question 2

Which of the following is NOT true about Fanconi's anemia?

Accepted Answer

Bone marrow hyperplasia

Answer

Defect in DNA repair

Answer

Congenital anomaly present

Answer

Increased chances of cancer

Question 3

An infant presents with bony pain and dermatitis on the scalp. Skull X-ray and electron microscopy of a biopsy from a lesion are provided. What is the most probable diagnosis?

Accepted Answer

Langerhans cell histiocytosis

Answer

Multiple myeloma

Answer

Thalassemia

Answer

Acute myeloid leukemia

Question 4

Which of the following is not a cause of secondary polycythemia?

Accepted Answer

Myeloproliferative changes

Answer

High Altitude

Answer

Pheochromocytoma

Answer

Cerebellar hemangioblastoma

Question 5

Which of the following is NOT a cause of Disseminated Intravascular Coagulation (DIC)?

Accepted Answer

Acute myeloid leukemia M1 subtype

Answer

Falciparum malaria

Answer

Trauma

Answer

Carcinoma of the pancreas

Question 6

All are seen in Thalassemia major EXCEPT?

Accepted Answer

Macrocytic anemia

Answer

Transfusion dependency

Answer

Hepato-splenomegaly

Answer

Target cells

Question 7

What is the most common cause of Hereditary Spherocytosis?

Accepted Answer

Ankyrin

Answer

Spectrin

Answer

Glycophorin

Answer

Band 4

Question 8

The peripheral smear of hereditary spherocytosis will typically show spherocytes. What is the characteristic size of these spherocytes compared to normal red blood cells?

Accepted Answer

Smaller size than RBCs

Answer

Usually of the same size as RBCs

Answer

Reticulocytosis is absent

Answer

Anemia is negligible

Question 9

What is the best marker for iron deficiency?

Accepted Answer

Serum ferritin

Answer

Serum iron

Answer

Total iron binding capacity

Answer

Transferrin saturation

Question 10

The Hodgkin lymphoma subtype that particularly involves the anterior mediastinum is:

Accepted Answer

Nodular sclerosing

Answer

Lymphocyte predominant

Answer

Lymphocyte depleted

Answer

Mixed cellularity

Hematopathology — MCQs

Hematopathology — MCQs

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