Hematology Practice Questions

Q: Which of the following conditions is not transmitted familially?

Factor V Leiden mutation. **Explanation:** The correct answer is **Factor V Leiden mutation**. While this condition is a genetic disorder, the question asks which is not "transmitted familially" in the context of classical Mendelian inheritance patterns typically seen in the other options. 1. **Factor V Leiden Mutation:** This is an autosomal dominant condition caused by a point mutation (G1691A) in the Factor V gene. While it is inherited, it is often categorized as a **thrombophilia** where environmental triggers (surgery, pregnancy, oral contraceptives) play a massive role in clinical expression. In many medical examinations, it is contrasted against classical hematologic "diseases" because it is a genetic risk factor rather than a guaranteed clinical disease state. *Note: If this question appears in a competitive exam, it is often a "best fit" answer or potentially a controversial recall, as all four options technically have genetic bases.* 2. **Thalassemia:** This is a classic **autosomal recessive** hemoglobinopathy caused by deficient synthesis of alpha or beta globin chains. It follows strict familial transmission patterns [1]. 3. **Hemophilia:** Hemophilia A and B are classic **X-linked recessive** disorders. They show a clear familial pattern, typically affecting males while females act as carriers. 4. **Sickle Cell Anemia:** This is an **autosomal recessive** disorder caused by a point mutation in the ̢-globin chain (glutamic acid replaced by valine) [1]. It is strictly transmitted from parents to offspring. **Clinical Pearls for NEET-PG:** * **Factor V Leiden** is the **most common** inherited cause of hypercoagulability (thrombophilia) in Caucasians. * The mutation makes Factor V resistant to inactivation by **Activated Protein C (APC)**. * **High-yield inheritance:** Hemophilia (X-linked), Thalassemia/Sickle Cell (Autosomal Recessive), Hereditary Spherocytosis (Autosomal Dominant) [2].

Q: Autoimmune destruction of platelets is seen in which of the following conditions?

All the above. **Explanation:** The underlying medical concept in this question is **Secondary Immune Thrombocytopenic Purpura (ITP)**. While primary ITP is idiopathic, secondary ITP occurs when an underlying systemic disease triggers the production of autoantibodies (usually IgG) against platelet surface glycoproteins (like GPIIb/IIIa), leading to their destruction by splenic macrophages [2]. * **Systemic Lupus Erythematosus (SLE):** Hematologic abnormalities are a hallmark of SLE [1]. Autoantibodies against platelets are common, and thrombocytopenia is one of the diagnostic criteria for SLE [2]. * **Chronic Lymphocytic Leukemia (CLL):** This is the most common leukemia associated with autoimmune cytopenias. In CLL, the malignant B-cells can dysregulate the immune system, leading to the production of autoantibodies against platelets (ITP) or red cells (AIHA/Evans Syndrome) [2]. * **Human Immunodeficiency Virus (HIV):** HIV causes thrombocytopenia through multiple mechanisms, but a primary cause is the production of cross-reactive antibodies and immune complexes that lead to accelerated platelet clearance, mimicking classic ITP [2]. **Conclusion:** Since all three conditions are well-established causes of immune-mediated platelet destruction, **Option D** is the correct answer. **High-Yield Clinical Pearls for NEET-PG:** * **Evans Syndrome:** The clinical combination of Autoimmune Hemolytic Anemia (AIHA) and Immune Thrombocytopenia (ITP). * **Drug-induced ITP:** Always rule out drugs like Quinine, Heparin (HIT), and Sulfa drugs in patients presenting with sudden low platelet counts [2]. * **First-line Treatment:** For most secondary ITP cases, treating the underlying primary condition is key, alongside standard ITP therapies like Corticosteroids or IVIG.

Q: An 18-year-old man of Italian descent presents with a hypochromic microcytic anemia of 10 g/dL, characterized by anisocytosis, poikilocytosis, and target cells on peripheral blood smear. His WBC count is 9500/mL, platelet count is 240,000/mL, and reticulocyte count is 7%. The spleen is palpable 5 cm below the left costal margin. What is the most likely diagnosis?

Thalassemia minor. **Explanation:** The clinical presentation points towards **Thalassemia Minor (Beta-Thalassemia Trait)**. The patient exhibits a classic triad: Mediterranean (Italian) descent, mild microcytic hypochromic anemia (Hb 10 g/dL), and significant splenomegaly. **Why Thalassemia Minor is correct:** 1. **Peripheral Smear:** The presence of **target cells**, anisocytosis, and poikilocytosis is hallmark. 2. **Reticulocytosis:** A reticulocyte count of 7% indicates a compensatory marrow response to chronic hemolysis or ineffective erythropoiesis. 3. **Splenomegaly:** Chronic extravascular hemolysis leads to palpable splenomegaly, which is common in Thalassemia but rare in simple Iron Deficiency Anemia. 4. **Mentzer Index (High-Yield):** Though not explicitly calculated here, Thalassemia typically presents with a very low MCV relative to the RBC count (Mentzer Index <13). **Why other options are incorrect:** * **Sickle cell trait:** Usually asymptomatic with a normal peripheral smear (no sickling or target cells) and no splenomegaly [1]. * **HbS-C disease:** While it shows target cells and splenomegaly, it typically presents with more significant vaso-occlusive symptoms and specific "HbC crystals" on the smear. * **Sideroblastic anemia:** Characterized by dimorphic RBC populations and ringed sideroblasts in the bone marrow; it does not specifically correlate with Italian descent or the degree of splenomegaly seen here. **NEET-PG High-Yield Pearls:** * **Confirmatory Test:** Hb Electrophoresis showing **increased HbA2 (>3.5%)** is diagnostic for Beta-Thalassemia minor. * **Target Cells (Codocytes):** Seen in "HALT" (HbC disease, Asplenia, Liver disease, Thalassemia). * **Differentiating from IDA:** Thalassemia has a **normal to high RBC count** despite low Hb; Iron Deficiency has a low RBC count.

Q: Which of the following is NOT a Vitamin K-dependent clotting factor?

Factor VIII. **Explanation:** The synthesis of certain coagulation factors in the liver requires **Vitamin K** as a cofactor for the enzyme **gamma-glutamyl carboxylase**. This enzyme adds a carboxyl group to glutamate residues on these proteins, allowing them to bind calcium ions and anchor to phospholipid surfaces, which is essential for their activation [1]. **Why Factor VIII is the correct answer:** Factor VIII (Anti-hemophilic factor) is **not** Vitamin K-dependent. Unlike most other clotting factors synthesized in the liver hepatocytes, Factor VIII is primarily produced in the **sinusoidal endothelial cells** of the liver and extrahepatic endothelial cells. It circulates in the plasma bound to von Willebrand Factor (vWF). **Analysis of incorrect options:** * **Factor II (Prothrombin):** A key Vitamin K-dependent serine protease that is converted to thrombin [1], [2]. * **Factor IX (Christmas Factor):** A Vitamin K-dependent factor involved in the intrinsic pathway [1]. * **Factor X (Stuart-Prower Factor):** A Vitamin K-dependent factor that marks the beginning of the common pathway [1]. **High-Yield Clinical Pearls for NEET-PG:** * **Mnemonic:** Remember the Vitamin K-dependent factors as **"1972"** (Factors **10, 9, 7, and 2**) plus **Protein C and Protein S** (anticoagulants). * **Warfarin Mechanism:** Warfarin inhibits **Vitamin K Epoxide Reductase (VKORC1)**, preventing the recycling of Vitamin K and thus inhibiting the synthesis of these specific factors. * **Factor VII** has the shortest half-life among these factors, which is why the Prothrombin Time (PT/INR) is the first to rise during Vitamin K deficiency or early Warfarin therapy [1]. * **Factor VIII** levels are notably **normal or elevated** in liver disease (since it is made in endothelium), helping clinicians differentiate liver failure from Vitamin K deficiency.

Q: Bernard Soulier syndrome is due to a defect in which of the following?

Glycoprotein Ib/IX complex. **Explanation:** **Bernard-Soulier Syndrome (BSS)** is an autosomal recessive bleeding disorder characterized by a defect in the **Glycoprotein (GP) Ib/IX/V complex [1]**. This complex serves as the primary receptor for **von Willebrand Factor (vWF)**, which mediates platelet adhesion to the subendothelial collagen at sites of vascular injury [1]. Without this functional receptor, platelets cannot adhere to the vessel wall, leading to a prolonged bleeding time. **Analysis of Options:** * **Option A (Correct):** The GP Ib/IX/V complex is the specific molecular defect in BSS [1]. * **Option B (Incorrect):** A defect in the **GP IIb/IIIa complex** (the receptor for fibrinogen) leads to **Glanzmann Thrombasthenia**, which impairs platelet aggregation rather than adhesion [1]. * **Option C (Incorrect):** Fibrinogen deficiency (Afibrinogenemia) affects the final common pathway of coagulation and platelet aggregation, but is not the primary defect in BSS. * **Option D (Incorrect):** **von Willebrand Disease** is caused by a deficiency or dysfunction of the vWF protein itself, not the platelet receptor [1]. **High-Yield Clinical Pearls for NEET-PG:** 1. **The "Giant Platelet" Clue:** BSS is classically associated with **thrombocytopenia** and **large (giant) platelets** on a peripheral smear (often as large as red blood cells). 2. **Ristocetin Test:** In BSS, platelet aggregation is **absent** with Ristocetin but **normal** with other agonists (ADP, Epinephrine, Collagen). 3. **Differentiation:** Unlike von Willebrand Disease, the Ristocetin-induced aggregation in BSS **cannot** be corrected by adding normal plasma (cryoprecipitate), as the defect lies in the platelet receptor, not the plasma factor.

Q: Which of the following can be an approach in diagnosing polycythemia vera?

All of the above. To diagnose Polycythemia Vera (PV), a clinician must differentiate between **Absolute Polycythemia** (true increase in red cell mass) and **Relative Polycythemia** (decreased plasma volume), and further distinguish **Primary** from **Secondary** causes. [1] **Explanation of Options:** * **Red Cell Mass (RCM):** This is the gold standard for confirming **Absolute Polycythemia**. In PV, the RCM is significantly elevated (>25% above mean predicted). This helps rule out "Stress Polycythemia" (Gaisbock syndrome), where RCM is normal but hematocrit is high due to low plasma volume. [1] * **Serum Erythropoietin (EPO) Levels:** This is the most important initial biochemical test. In PV (a primary process), EPO levels are **suppressed/low** because the bone marrow produces RBCs autonomously. In secondary polycythemia (e.g., high altitude, smoking, or tumors), EPO levels are elevated. * **Arterial Oxygen Saturation ($SaO_2$):** This is used to rule out **Secondary Polycythemia** caused by chronic hypoxia (e.g., COPD or cyanotic heart disease). If $SaO_2$ is 16.5 g/dL in men, >16.0 g/dL in women), bone marrow hypercellularity, and the presence of the **JAK2V617F** mutation (found in >95% of cases). [1] * **Pruritus:** Characteristically occurs after a hot bath (aquagenic pruritus) due to mast cell degranulation. [1] * **Complication:** Increased risk of both arterial/venous thrombosis and transformation into myelofibrosis or AML. [1] * **Treatment of Choice:** Therapeutic phlebotomy (target Hct <45%) and low-dose aspirin.

Q: Low serum iron and low serum ferritin is seen in which of the following conditions?

Iron deficiency anemia. The correct answer is **Iron deficiency anemia (IDA)**. This condition is characterized by a depletion of total body iron stores [2]. **1. Why Iron Deficiency Anemia is correct:** In IDA, the body’s iron stores are exhausted. **Serum Ferritin** is the most sensitive and specific initial marker for IDA as it directly reflects total body iron stores. When stores are depleted, ferritin levels drop (<15–30 ng/mL). Consequently, **Serum Iron** also decreases because there is insufficient iron to be released into the circulation for erythropoiesis. **2. Why the other options are incorrect:** * **Chronic Kidney Disease (Anemia of Chronic Disease):** Characterized by high **Hepcidin** levels which trap iron inside macrophages [4]. This leads to **low serum iron** [1] but **normal or high serum ferritin** (as it is an acute-phase reactant and stores are not actually empty). * **Sideroblastic Anemia:** This is a defect in heme synthesis leading to iron overload. It typically shows **high serum iron** and **high serum ferritin**, with characteristic ring sideroblasts in the bone marrow. * **Fanconi Anemia:** This is an inherited bone marrow failure syndrome (aplastic anemia). It involves a stem cell defect, not an iron metabolism issue. Iron studies are usually normal unless the patient has received multiple blood transfusions (leading to iron overload). **High-Yield Clinical Pearls for NEET-PG:** * **Best initial test for IDA:** Serum Ferritin (Low). * **Gold Standard test for IDA:** Bone marrow aspiration (Prussian blue staining showing absent iron stores). * **TIBC (Total Iron Binding Capacity):** This is the only parameter that **increases** in IDA; it decreases in Anemia of Chronic Disease [3]. * **Transferrin Saturation:** Decreased in both IDA and Anemia of Chronic Disease.

Q: In a patient with thrombotic thrombocytopenic purpura, all of the following are seen EXCEPT?

Coomb's positive. **Explanation:** Thrombotic Thrombocytopenic Purpura (TTP) is a microangiopathic hemolytic anemia (MAHA) characterized by the formation of small-vessel thrombi due to a deficiency in the **ADAMTS13** enzyme. This deficiency leads to uncleaved large von Willebrand factor (vWF) multimers, causing platelet aggregation. **1. Why "Coombs positive" is the correct answer (the "EXCEPT"):** The hemolysis in TTP is **mechanical**, not immune-mediated [1]. As RBCs pass through fibrin/platelet meshes in small vessels, they are physically sheared, forming **schistocytes** [1]. Since there are no antibodies directed against the RBC surface, the Direct Antiglobulin Test (Coombs test) is **negative**. A positive Coombs test would instead suggest Autoimmune Hemolytic Anemia (AIHA) or Evans Syndrome. **2. Why the other options are seen in TTP:** * **Anemia:** This is a hallmark feature. It is a microangiopathic hemolytic anemia (MAHA) characterized by low hemoglobin, high LDH, and schistocytes on peripheral smear [1]. * **Thrombocytopenia:** Extensive platelet consumption occurs during the formation of microthrombi, leading to low platelet counts (usually <50,000/µL) [2]. * **Neurologic features:** These occur due to microvascular occlusion in the CNS, manifesting as headaches, confusion, seizures, or focal deficits. **High-Yield Clinical Pearls for NEET-PG:** * **The Classic Pentad (FAT RN):** **F**ever, **A**nemia (MAHA), **T**hrombocytopenia, **R**enal failure, and **N**eurologic symptoms [1]. (Note: The full pentad is seen in <25% of patients; Anemia and Thrombocytopenia are the most consistent). * **Diagnosis:** Decreased **ADAMTS13** activity (<10%). * **Treatment:** **Plasmapheresis (Plasma Exchange)** is the gold standard. It removes the autoantibodies and replaces the ADAMTS13 enzyme. * **Contraindication:** Platelet transfusion is generally avoided as it may "fuel the fire" of thrombus formation.

Question 1

Which of the following conditions is not transmitted familially?

Accepted Answer

Factor V Leiden mutation

Answer

Thalassemia

Answer

Hemophilia

Answer

Sickle cell anemia

Question 2

Autoimmune destruction of platelets is seen in which of the following conditions?

Accepted Answer

All the above

Answer

Systemic Lupus Erythematosus (SLE)

Answer

Chronic Lymphocytic Leukemia (CLL)

Answer

Human Immunodeficiency Virus (HIV) infection

Question 3

An 18-year-old man of Italian descent presents with a hypochromic microcytic anemia of 10 g/dL, characterized by anisocytosis, poikilocytosis, and target cells on peripheral blood smear. His WBC count is 9500/mL, platelet count is 240,000/mL, and reticulocyte count is 7%. The spleen is palpable 5 cm below the left costal margin. What is the most likely diagnosis?

Accepted Answer

Thalassemia minor

Answer

Sickle cell trait

Answer

HbS-C disease

Answer

Sideroblastic anemia

Question 4

Which of the following is NOT a Vitamin K-dependent clotting factor?

Accepted Answer

Factor VIII

Answer

Factor II

Answer

Factor IX

Answer

Factor X

Question 5

A 20-year-old female presents with a 2-year history of anemia and mild jaundice. Her peripheral smear shows spherocytes. What is the most appropriate investigation?

Accepted Answer

Coombs test

Answer

Reticulocyte count

Answer

Osmotic fragility test

Answer

Bone marrow aspiration

Question 6

Bernard Soulier syndrome is due to a defect in which of the following?

Accepted Answer

Glycoprotein Ib/IX complex

Answer

Glycoprotein IIb/IIIa complex

Answer

Fibrinogen

Answer

von Willebrand factor

Question 7

Which of the following can be an approach in diagnosing polycythemia vera?

Accepted Answer

All of the above

Answer

Measure red cell mass

Answer

Measure serum EPO levels

Answer

Measure arterial oxygen saturation

Question 8

Anemia is typically more severe in which of the following endocrine conditions?

Accepted Answer

Addison's disease

Answer

Hypothyroidism

Answer

Castration

Answer

Hyperparathyroidism

Question 9

Low serum iron and low serum ferritin is seen in which of the following conditions?

Accepted Answer

Iron deficiency anemia

Answer

Chronic kidney disease

Answer

Sideroblastic anemia

Answer

Fanconi anemia

Question 10

In a patient with thrombotic thrombocytopenic purpura, all of the following are seen EXCEPT?

Accepted Answer

Coomb's positive

Answer

Anemia

Answer

Neurologic features

Answer

Thrombocytopenia

Hematology — MCQs

Hematology — MCQs

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