Hematopathology Practice Questions

Q: Which of the following is NOT present in Sideroblastic anaemia?

Decreased transferrin saturation. In Sideroblastic Anemia (SA), the core defect is the **inability to incorporate iron into the protoporphyrin ring** to form heme, despite adequate iron stores. ### Why "Decreased Transferrin Saturation" is the Correct Answer In SA, iron is not utilized for heme synthesis. This leads to an "iron overload" state. Consequently, **Serum Iron increases**, **Ferritin increases**, and **Total Iron Binding Capacity (TIBC) decreases**. This results in an **Increased Transferrin Saturation** (often >50%). Therefore, decreased saturation is not a feature of SA; it is characteristic of Iron Deficiency Anemia. ### Explanation of Other Options * **Microcytic Anemia:** Since heme synthesis is impaired, hemoglobin production drops, leading to microcytic, hypochromic RBCs. A "dimorphic" blood picture (both normocytic and microcytic cells) is a classic hallmark. * **Sideroblast cells (Ringed Sideroblasts):** These are the pathognomonic finding. Iron accumulates in the mitochondria surrounding the nucleus of erythroid precursors, visible with **Prussian Blue stain**. Note: While primarily seen in the bone marrow, they are the defining pathological feature of the disease process. * **Ineffective Erythropoiesis:** The iron-laden mitochondria are damaged by free radicals, leading to the premature death of RBC precursors within the bone marrow before they can be released into circulation. ### NEET-PG High-Yield Pearls * **Most common hereditary cause:** X-linked deficiency of **ALAS-2 enzyme**. * **Most common acquired cause:** Alcoholism (reversible) and Lead poisoning. * **Drug-induced:** Isoniazid (antagonizes Vitamin B6/Pyridoxine, a cofactor for ALAS). * **Treatment:** Trial of **Pyridoxine (B6)** is the first-line management for many patients.

Q: A 32-year-old asymptomatic female, not requiring blood transfusion, presents with Hb 13.0 gm/dl. Her HbF levels are 95% and HbA2 levels are 1.5%. Which of the following is the most likely diagnosis?

Hereditary persistence of fetal hemoglobin. The key to this question lies in the **asymptomatic presentation** and the **normal hemoglobin level (13.0 gm/dl)** despite a massive elevation in HbF (95%). **1. Why Hereditary Persistence of Fetal Hemoglobin (HPFH) is correct:** HPFH is a benign genetic condition where the "gamma-to-beta globin switch" fails to occur after birth. Unlike thalassemia, there is no imbalance between alpha and non-alpha chains; instead, gamma-chain production compensates perfectly for the lack of beta-chains. Because HbF (α2γ2) functions effectively as an oxygen carrier, patients remain **asymptomatic** with **normal red cell indices** and no anemia. In the pancellular form of HPFH, HbF can reach 100%. **2. Why the other options are incorrect:** * **Beta Homozygous Thalassemia (Thalassemia Major):** Presents in infancy with severe anemia (Hb <7 gm/dl), hepatosplenomegaly, and transfusion dependency. While HbF is high (70-90%), the patient would never be asymptomatic with a normal Hb of 13.0 gm/dl. * **Thalassemia Intermedia:** These patients have moderate anemia (Hb 7-10 gm/dl) and clinical symptoms like bony changes or splenomegaly. They do not maintain a normal Hb of 13.0 gm/dl. * **Beta Heterozygous Thalassemia (Thalassemia Trait):** Characterized by a mild anemia and a hallmark **elevation of HbA2 (>3.5%)**. HbF is usually normal or only slightly elevated (1-5%). **Clinical Pearls for NEET-PG:** * **HPFH vs. Thalassemia:** The defining difference is the **absence of ineffective erythropoiesis** in HPFH. * **HbA2 levels:** Normal is <3.5%. Elevated HbA2 is the most reliable diagnostic marker for **Beta-Thalassemia Trait**. * **Kleihauer-Betke test:** In pancellular HPFH, HbF is distributed uniformly across all RBCs, whereas in Thalassemia, it is distributed heterogeneously (F-cells).

Q: Peripheral smear may show vacuolated lymphocytes in all of the following conditions EXCEPT?

Abetalipoproteinemia. **Explanation:** The presence of **vacuolated lymphocytes** on a peripheral blood smear is a classic morphological marker for several **lysosomal storage disorders (LSDs)**. These vacuoles represent enlarged lysosomes filled with undigested substrates due to specific enzyme deficiencies [1]. **1. Why Abetalipoproteinemia is the correct answer:** Abetalipoproteinemia is a disorder of lipid metabolism caused by a mutation in the microsomal triglyceride transfer protein (MTP). The hallmark peripheral smear finding in this condition is **Acanthocytes** (spur cells), not vacuolated lymphocytes. Lipid malabsorption occurs, but it does not result in the lysosomal storage patterns seen in the other options. **2. Analysis of incorrect options (Conditions showing vacuolated lymphocytes):** * **Neuronal Ceroid Lipofuscinosis (NCL):** Specifically the juvenile form (Batten disease), which is a high-yield association for vacuolated lymphocytes. * **Fucosidosis and Sialidosis:** These are glycoprotein storage diseases. Along with **Mannosidosis**, they frequently present with prominent cytoplasmic vacuolation in lymphocytes [1]. * *Other notable causes:* Pompe disease, Wolman disease, and Niemann-Pick disease [1]. **Clinical Pearls for NEET-PG:** * **Acanthocytes (Spur Cells):** Think Abetalipoproteinemia, Chronic Liver Disease, or McLeod Syndrome. * **Vacuolated Lymphocytes + Coarse Facies:** Think Mucopolysaccharidosis (MPS) or Glycoproteinosis (Fucosidosis/Sialidosis) [1]. * **Vacuolated Lymphocytes + Cherry Red Spot:** Think Sialidosis or Niemann-Pick Disease [1]. * **Jordan’s Anomaly:** This refers to vacuoles in **neutrophils** (not lymphocytes), typically seen in Chanarin-Dorfman syndrome (a lipid storage disease). **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 161-164.

Question 1

A 1-year-old girl presents with a 3-day history of fever and diarrhea. Her temperature is 38°C (101°F). A CBC reveals a normal WBC count and an increased hematocrit of 48 g/dL. What is the most likely cause of the elevated hematocrit in this patient?

Accepted Answer

Dehydration

Answer

Acute phase response

Answer

Diabetes insipidus

Answer

Malabsorption

Question 2

Which of the following is NOT present in Sideroblastic anaemia?

Accepted Answer

Decreased transferrin saturation

Answer

Microcytic anaemia

Answer

Sideroblast cells in blood smear film

Answer

Ineffective erythropoiesis

Question 3

Basophilic stippling is seen with which of the following conditions?

Accepted Answer

Thalassaemia

Answer

Sickle cell anemia

Answer

Megaloblastic anemia

Answer

Splenectomy

Question 4

Which of the following is a consequence of extravascular hemolysis?

Accepted Answer

Jaundice

Answer

Hemoglobinemia

Answer

Hemosiderinuria

Answer

All of the above

Question 5

A 32-year-old asymptomatic female, not requiring blood transfusion, presents with Hb 13.0 gm/dl. Her HbF levels are 95% and HbA2 levels are 1.5%. Which of the following is the most likely diagnosis?

Accepted Answer

Hereditary persistence of fetal hemoglobin

Answer

Beta homozygous thalassemia

Answer

Thalassemia intermedia

Answer

Beta heterozygous thalassemia

Question 6

A 17-year-old boy presents with petechiae, sternal tenderness on examination, and a retrosternal mass on X-ray. Bone marrow biopsy shows hypercellularity with more than 20% lymphoblasts. Peripheral smear reveals very low TLC and the presence of lymphoblasts. Which of the following is NOT true about the condition the patient is suffering from?

Accepted Answer

It has a good prognosis

Answer

Notch gene mutation may be present

Answer

An immature T-cell phenotype (TdT/CD34/CD7 positive) may be seen

Answer

Thymic involvement is common

Question 7

Peripheral smear may show vacuolated lymphocytes in all of the following conditions EXCEPT?

Accepted Answer

Abetalipoproteinemia

Answer

Neuronal ceroid lipofuscinosis

Answer

Fucosidosis

Answer

Sialidosis

Question 8

Which immunoglobulin is typically implicated as a warm antibody in autoimmune hemolytic anemia?

Accepted Answer

IgG

Answer

IgM

Answer

IgE

Answer

IgA

Question 9

In blood transfusion, which blood group system is most important?

Accepted Answer

Kell

Answer

Lewis

Answer

Li

Answer

Lutheran

Question 10

Which of the following statements regarding hematological malignancies is true?

Accepted Answer

Acute lymphoid leukemia can occur in individuals less than 1 year of age.

Answer

Chronic myeloid leukemia typically occurs in individuals over 50 years of age.

Answer

Hairy cell leukemia in patients younger than 50 years generally has a good prognosis.

Answer

Chronic lymphocytic leukemia is primarily seen in individuals younger than 50 years of age.

Hematopathology — MCQs

Hematopathology — MCQs

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