Hematopathology Practice Questions

Q: All of the following investigation findings about Haemophilia A are true, EXCEPT:

PT increased. Hemophilia A is an X-linked recessive bleeding disorder characterized by a deficiency of **Factor VIII** [1]. To answer this question, one must understand the coagulation cascade and which laboratory tests evaluate specific pathways. **Why Option B is the Correct Answer (The Exception):** * **Prothrombin Time (PT)** measures the **Extrinsic** and **Common** pathways (Factors VII, X, V, II, and I) [2]. * Since Hemophilia A involves a deficiency in Factor VIII (a component of the **Intrinsic** pathway), the PT remains **normal** [2]. An increased PT would suggest a deficiency in Factor VII, Vitamin K deficiency, or liver disease. **Analysis of Other Options:** * **A. PTT increased:** Partial Thromboplastin Time (PTT/aPTT) measures the **Intrinsic** and Common pathways (Factors XII, XI, IX, VIII, X, V, II, I) [2]. A deficiency in Factor VIII directly leads to a prolonged aPTT. * **C. Clotting time is increased:** Clotting time is a non-specific measure of the intrinsic pathway. In severe hemophilia, the time taken for whole blood to clot is prolonged. * **D. Serum levels of factor VIII are decreased:** This is the definitive biochemical hallmark of Hemophilia A. **High-Yield Clinical Pearls for NEET-PG:** * **Mixing Study:** If aPTT is prolonged, a mixing study is performed [2]. If the aPTT corrects with normal plasma, it indicates a **factor deficiency** (like Hemophilia); if it doesn't correct, it indicates a **factor inhibitor**. * **Hemophilia B:** Deficiency of Factor IX (Christmas disease); lab findings are identical to Hemophilia A. * **von Willebrand Disease (vWD):** Often confused with Hemophilia A because vWF stabilizes Factor VIII [3]. However, in vWD, the **Bleeding Time is increased** and Ristocetin cofactor assay is abnormal [3]. * **Most common site of bleeding:** Hemarthrosis (bleeding into joints, most commonly the knee).

Q: Bence-Jones proteins are a laboratory finding of:

Multiple myeloma. **Explanation:** **Multiple Myeloma (Option B)** is a plasma cell dyscrasia characterized by the monoclonal proliferation of plasma cells [1]. These cells produce excessive amounts of monoclonal (M) proteins. **Bence-Jones proteins** are specifically the **monoclonal free light chains** (either kappa or lambda) that are small enough to be filtered by the glomerulus and excreted in the urine [2]. A key biochemical property is their unique solubility: they precipitate when heated to 40–60°C and redissolve upon boiling (100°C). **Why other options are incorrect:** * **Paget’s Disease (Option A):** A disorder of bone remodeling characterized by increased osteoclastic and osteoblastic activity. Key markers include elevated Serum Alkaline Phosphatase (ALP) and urinary hydroxyproline, not light chains. * **Malignant Melanoma (Option C):** A melanocytic skin cancer. While it may have various tumor markers (like S100 or LDH for prognosis), it does not involve immunoglobulin production. * **Fibrous Dysplasia (Option D):** A benign bone condition where normal bone is replaced by fibrous tissue (showing a "ground-glass" appearance on X-ray). It does not involve plasma cell pathology. **High-Yield Clinical Pearls for NEET-PG:** * **Diagnosis:** Bence-Jones proteins are detected by **Urine Protein Electrophoresis (UPEP)** or Immunofixation [2]. They are *not* detected by standard urine dipsticks (which primarily sense albumin). * **Renal Impact:** These light chains are nephrotoxic and lead to **"Myeloma Kidney"** (Cast Nephropathy). * **CRAB Criteria for Myeloma:** **C**alcium elevation, **R**enal insufficiency, **A**nemia, and **B**one lesions (lytic "punched-out" lesions) [2]. * **Diagnostic Hallmark:** Bone marrow biopsy showing >10% clonal plasma cells [2].

Q: A 13-year-old girl presents with fatigue and weakness, found to have reduced hemoglobin. Her MCV is 70 fL, MCH is 22 pg, and RDW is 28%. What is her likely diagnosis?

Iron deficiency anemia. **Explanation:** The patient presents with **microcytic hypochromic anemia** (MCV 15%). This reflects **anisocytosis** (variation in red cell size), as the bone marrow struggles to produce uniform cells due to fluctuating iron availability. In a 13-year-old girl, IDA is the most common cause of microcytic anemia, often exacerbated by the onset of menstruation and nutritional gaps. 2. **Why other options are incorrect:** * **Thalassemia Minor:** This is the most important differential. However, Thalassemia minor typically presents with a **normal or only slightly elevated RDW** because the genetic defect results in a uniform population of small cells. The Mentzer Index (MCV/RBC count) is usually 13 in IDA. * **Thalassemia Major:** Patients usually present in infancy (6–9 months) with severe anemia, hepatosplenomegaly, and skeletal changes. A 13-year-old presenting only now with mild fatigue is unlikely to have Major. * **Sideroblastic Anemia:** While it can be microcytic, it is much rarer and often associated with a dimorphic blood picture or specific triggers (drugs/toxins). **High-Yield Clinical Pearls for NEET-PG:** * **RDW** is the earliest laboratory indicator of Iron Deficiency Anemia, rising even before hemoglobin drops. * **Mentzer Index:** MCV ÷ RBC count. If ** 13**, suspect IDA. * **Gold Standard Investigation for IDA:** Bone marrow iron stores (Prussian blue staining), though Serum Ferritin is the most sensitive non-invasive test. * **Treatment Response:** The first sign of response to oral iron therapy is a rise in **reticulocyte count**, peaking at 7–10 days.

Q: A middle-aged female presents with a lytic lesion in the lower one-third of the femur. Biopsy showed grooved nuclei and giant cells, with no periosteal reaction. What is the confirmatory investigation for this case?

CD1a and Langerin IHC. ### Explanation The clinical presentation of a lytic lesion in a middle-aged female with specific histopathological findings of **grooved nuclei** (coffee-bean appearance) and **giant cells** is characteristic of **Langerhans Cell Histiocytosis (LCH)**. While LCH is more common in children, it can present in adults, often involving the femur or skull. **1. Why CD1a and Langerin IHC is correct:** LCH is a proliferative disorder of Langerhans cells. On microscopy, these cells show characteristic nuclear grooves. The gold standard for confirmation is **Immunohistochemistry (IHC)**. Langerhans cells are positive for **CD1a, Langerin (CD207), and S-100**. Electron microscopy would show Birbeck granules (tennis-racket shaped), but IHC is the modern confirmatory investigation of choice. **2. Why other options are incorrect:** * **Serum PTH:** Elevated in Brown tumors of Hyperparathyroidism. While Brown tumors are lytic and contain giant cells, they do not feature the characteristic grooved nuclei of LCH. * **Serum Calcitonin:** Used as a marker for Medullary Thyroid Carcinoma; it has no diagnostic value for primary bone tumors. * **MRI:** While excellent for assessing the extent of marrow involvement and soft tissue components, it is not a "confirmatory" investigation as it cannot provide a histopathological or molecular diagnosis. **3. NEET-PG Clinical Pearls:** * **LCH Triad (Hand-Schüller-Christian disease):** Exophthalmos, Diabetes Insipidus, and lytic bone lesions. * **Radiology:** LCH often presents as a "punched-out" lytic lesion without a periosteal reaction. In the spine, it can cause **Vertebra Plana** (Calve’s disease). * **Differential Diagnosis:** Giant Cell Tumor (GCT) also occurs in the distal femur of young adults but is typically **epiphyseal** and lacks grooved nuclei on biopsy.

Q: In iron deficiency anemia, what is typically observed?

Increased protoporphyrin. **Explanation:** In Iron Deficiency Anemia (IDA), the correct finding is **Increased Free Erythrocyte Protoporphyrin (FEP)**. **Why the correct answer is right:** Heme synthesis occurs in the mitochondria, where the enzyme **Ferrochelatase** inserts ferrous iron ($Fe^{2+}$) into a Protoporphyrin IX ring [1]. In IDA, there is a lack of available iron to complete this reaction. Consequently, Protoporphyrin cannot be converted into Heme, leading to its accumulation within the red blood cells. This makes FEP a sensitive marker for "iron-deficient erythropoiesis." **Why the incorrect options are wrong:** * **B. Increased iron:** In IDA, serum iron levels are **decreased** due to depleted body stores. * **C. Increased ferritin:** Ferritin is the storage form of iron. It is the **first parameter to decrease** in IDA, reflecting the exhaustion of iron stores. (Note: Ferritin is an acute-phase reactant and may be falsely normal/high in inflammation). * **D. Increased transferrin saturation:** Transferrin saturation (Serum Iron/TIBC) **decreases** (typically <15%) because serum iron is low while the Total Iron Binding Capacity (TIBC) increases as the liver produces more transferrin to compensate for the deficiency [1]. **High-Yield Clinical Pearls for NEET-PG:** * **Earliest sign of IDA:** Decreased Serum Ferritin. * **Gold Standard investigation:** Bone marrow aspiration with **Perl’s Prussian Blue stain** (showing absent haemosiderin in macrophages). * **Mentzer Index:** (MCV/RBC count) >13 suggests IDA, whereas <13 suggests Thalassemia trait. * **Blood Picture:** Microcytic hypochromic anemia with increased RDW (Anisocytosis) [1]. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 587-591.

Question 1

Which of the following is not a feature of multiple myeloma?

Accepted Answer

t(8;14) translocation

Answer

Recurrent infection

Answer

Neurological manifestation

Answer

Hypercalcemia

Question 2

Deficiency of GpIIb-IIIa results in which of the following conditions?

Accepted Answer

Glanzmann thrombasthenia

Answer

Wiskott-Aldrich syndrome

Answer

Bernard-Soulier syndrome

Answer

None of the above

Question 3

Which of the following cell types is NOT typically found in myelodysplastic syndrome?

Accepted Answer

Megakaryocytes with normal single multilobulated nuclei

Answer

Ringed sideroblasts

Answer

Pseudo-Pelger-Huet cells

Answer

Pawn ball megakaryocytes

Question 4

All of the following investigation findings about Haemophilia A are true, EXCEPT:

Accepted Answer

PT increased

Answer

PTT increased

Answer

Clotting time is increased

Answer

Serum levels of factor VIII are decreased

Question 5

Bence-Jones proteins are a laboratory finding of:

Accepted Answer

Multiple myeloma

Answer

Paget's disease

Answer

Malignant melanoma

Answer

Fibrous dysplasia

Question 6

A 13-year-old girl presents with fatigue and weakness, found to have reduced hemoglobin. Her MCV is 70 fL, MCH is 22 pg, and RDW is 28%. What is her likely diagnosis?

Accepted Answer

Iron deficiency anemia

Answer

Thalassemia major

Answer

Sideroblastic anemia

Answer

Thalassemia minor

Question 7

Which of the following is NOT included in the differential diagnosis of a Reticulocyte Index > 2.5?

Accepted Answer

Macrocytic anemia

Answer

Hemolysis

Answer

Hemoglobinopathy

Answer

Blood loss

Question 8

A middle-aged female presents with a lytic lesion in the lower one-third of the femur. Biopsy showed grooved nuclei and giant cells, with no periosteal reaction. What is the confirmatory investigation for this case?

Accepted Answer

CD1a and Langerin IHC

Answer

Serum PTH

Answer

Serum Calcitonin

Answer

MRI

Question 9

In iron deficiency anemia, what is typically observed?

Accepted Answer

Increased protoporphyrin

Answer

Increased iron

Answer

Increased ferritin

Answer

Increased transferrin saturation

Question 10

Absolute lymphocytosis is seen in which of the following conditions?

Accepted Answer

Tuberculosis (TB)

Answer

Systemic Lupus Erythematosus (SLE)

Answer

Chronic Lymphocytic Leukemia (CLL)

Answer

Brucellosis

Hematopathology — MCQs

Hematopathology — MCQs

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