Hematopathology Practice Questions

Q: The image shows:

Thalassemia. ***Thalassemia*** - The image on the left shows a child with features suggestive of **thalassemia major**, specifically **frontal bossing** (prominent forehead), wide-set eyes, and potentially **malar prominence** due to **extramedullary hematopoiesis** in the facial bones. This patient also has abdominal distension, likely due to **hepatosplenomegaly**. - The peripheral blood smear on the right is characteristic of thalassemia, showing **microcytic hypochromic cells**, target cells, and **nucleated red blood cells** (erythroblasts) which indicate severe ineffective erythropoiesis and high red blood cell turnover. *Hereditary spherocytosis* - This condition is characterized by the presence of **spherocytes** (small, dense, spherical red blood cells without central pallor) on the peripheral blood smear. - While hereditary spherocytosis can cause anemia and some similar clinical features, the **marked dysmorphic features** of the child and the specific red cell morphology (especially target cells and nucleated RBCs, not spherocytes) visible in the smear are more indicative of thalassemia. *Autoimmune hemolytic anemia* - This condition can lead to anemic symptoms and an enlarged spleen, but the peripheral smear typically shows **spherocytes** and sometimes **polychromasia** from reticulocytosis, with a positive direct antiglobulin test (DAT). - The facial dysmorphism and the presence of numerous target cells and nucleated red blood cells are not typical for autoimmune hemolytic anemia. *G6PD* - G6PD deficiency results in episodes of **hemolytic anemia** triggered by oxid ative stress, such as certain drugs, fava beans, or infections. - The peripheral smear during a hemolytic crisis might show **Heinz bodies** (which require a special stain) and **bite cells** due to oxidant damage, but the chronic facial changes and the characteristic target cells/nucleated RBCs seen in the image are not typical for G6PD deficiency.

Q: A 6-year-old Afro-American boy presents with acute abdomen and nonhealing ulcer on medial malleolus. Peripheral smear is shown. The most likely cause of this condition is:

Substitution of single amino acid base. ***Substitution of single amino acid base*** - The image shows numerous **sickle cells** (elongated, crescent-shaped red blood cells), which are characteristic of **sickle cell anemia**. - Sickle cell anemia is caused by a **point mutation** (a single amino acid substitution) in the beta-globin gene, where valine replaces glutamic acid at the sixth position. *Trinucleotide repeat* - **Trinucleotide repeat disorders** (e.g., Huntington's disease, Fragile X syndrome) involve an abnormal expansion of three-nucleotide sequences. - They present with neurological or developmental symptoms, not the hematological features of sickle cell disease. *Antibody to RBC membrane* - **Antibodies to RBC membrane** cause conditions like **autoimmune hemolytic anemia**, where red blood cells are destroyed by the immune system. - While it can cause anemia, the characteristic **sickle shape** of the red blood cells, as seen in the smear, is not a feature of autoimmune hemolytic anemia. *Genomic imprinting* - **Genomic imprinting** is an epigenetic phenomenon where certain genes are expressed in a parent-of-origin-specific manner (e.g., Prader-Willi syndrome). - This mechanism is not involved in the pathogenesis of sickle cell disease.

Q: A 16-year-old female with pallor and hepatosplenomegaly presents to your clinic. Peripheral smear shows:

Thalassemia intermedia. ***Thalassemia intermedia*** - The peripheral smear shows significant **anisopoikilocytosis** with numerous **target cells** (indicated by the arrowhead), teardrop cells, and some irregularly contracted cells, which are characteristic of thalassemia. - The patient's presentation with **pallor** and **hepatosplenomegaly** (due to extramedullary hematopoiesis and increased red cell destruction) in a 16-year-old female points towards a chronic hemolytic anemia like thalassemia intermedia. *Iron-deficiency anemia* - While it causes **microcytic hypochromic anemia**, the peripheral smear would typically show predominantly small, pale red cells and not the extensive target cells, teardrop cells, or significant anisopoikilocytosis seen in the image. - **Hepatosplenomegaly** is not a common finding in uncomplicated iron-deficiency anemia. *Autoimmune hemolytic anemia* - This condition typically presents with **spherocytes** (small, dense red cells lacking central pallor) due to immune-mediated destruction, and sometimes **agglutination**, which are not the predominant findings in this smear. - While it can cause anemia and splenomegaly, the distinct red cell morphology in the image is not typical for AIHA. *Megaloblastic anemia* - The classic peripheral smear findings for megaloblastic anemia are **macrocytic red blood cells** and **hypersegmented neutrophils**, neither of which are observed in this image. - The presence of target cells and other poikilocytes seen here excludes megaloblastic anemia.

Q: A 7-year-old boy presents with fever and weight loss. On examination he had pallor with lymphadenopathy. Peripheral smear is shown below. Diagnosis is: (AIIMS May 2017)

ALL. ***ALL*** - The peripheral smear shows numerous **blasts** with **scanty cytoplasm**, **prominent nucleoli**, and a **high nuclear-to-cytoplasmic ratio**, which is characteristic of **acute lymphoblastic leukemia (ALL)**. - Clinical features such as **fever**, **weight loss**, **pallor**, and **lymphadenopathy** in a 7-year-old child are classic presentations of ALL, the most common childhood leukemia. *AML* - While AML also presents with acute symptoms and blasts, the blasts in AML typically have **more abundant cytoplasm**, and may contain **Auer rods**, which are not clearly visible here. - The **morphology of the blasts** in the image, with their uniformly high N/C ratio and immature appearance, points away from typical AML. *Aplastic anemia* - Aplastic anemia is characterized by **pancytopenia** in the peripheral blood and **hypocellular bone marrow**, meaning a significant reduction in all blood cell lines, and **lacks the presence of blasts**. - The image clearly displays a proliferation of immature cells (blasts), which is contrary to the pathology of aplastic anemia. *Juvenile myelomonocytic leukemia* - JMML is a rare disorder characterized by **monocytosis**, **splenomegaly**, and typically presents in very young children (median age 2 years), often with **rashes** and **adenopathy**. - While there is some overlap in symptoms, the predominant cell type in the smear does not suggest a significant monocytic component, and the clinical picture in a 7-year-old child is less typical for JMML without other defining features.

Q: A patient presents with a solitary bone lesion. Histopathological examination shows the following microscopic features. What is the most likely diagnosis?

Unifocal Langerhans cell histiocytosis. ***Unifocal Langerhans cell histiocytosis*** - This condition is characterized by a single lesion of **Langerhans cells**, often presenting as a **lytic bone lesion** in children or young adults [1]. - It is the most benign form of Langerhans cell histiocytosis and typically has an excellent prognosis after local treatment. *Monoclonal Gammopathy of unknown significance* - MGUS is an asymptomatic condition characterized by the presence of a **monoclonal protein** in the blood without evidence of multiple myeloma or related disorders. - It does not typically present with **lytic bone lesions** or symptoms of bone pain. *Multiple myeloma* - Multiple myeloma is a malignant proliferation of **plasma cells** in the bone marrow [3], leading to widespread **lytic bone lesions** [2,4], hypercalcemia, renal failure, and anemia. - While it causes lytic lesions, the presentation is usually more systemic and aggressive than a single bone lesion [4]. *Paget's disease* - Paget's disease is a chronic bone disorder characterized by abnormal bone remodeling, leading to enlarged and weakened bones. - It typically presents with **bone pain**, deformities, and increased bone turnover markers, but the lesions are often **sclerotic** or mixed, not purely lytic, and it's more common in older adults. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, p. 630. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, p. 608. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, pp. 606-607. [4] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 616-617.

Q: A patient presents with intermittent fever, no weight loss and enlarged retroperitoneal lymph nodes. Peripheral smear is normal. Gross sample and its histopathology slide is shown below. Comment on the diagnosis.

Castleman disease. ***Castleman disease*** - The image shows **"lollipop lesions"** or **"onion-skinning"** of follicles with **regressed germinal centers** and prominent mantle zones, characteristic of the hyaline-vascular variant of Castleman disease. - Clinical features like **intermittent fever** and **enlarged retroperitoneal lymph nodes** with **no weight loss** can be seen in Castleman disease, particularly the unicentric type. *Non-Hodgkin's lymphoma* - This would typically show effacement of the normal lymph node architecture by a **monotonous proliferation of atypical lymphocytes**. - While it can cause lymphadenopathy and fever, the specific histological features presented do not align with typical non-Hodgkin's lymphoma. *Angiolymphoid hyperplasia* - Characterized by **multiple vascular channels** lined by plump endothelial cells with **lymphoid infiltrates**. - It often presents as subcutaneous nodules, usually in the head and neck region, and lacks the follicular changes seen here. *IgG4 related disease* - Histologically, this disease is characterized by a **dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells**, storiform fibrosis, and obliterative phlebitis. - While it can cause lymph node enlargement, the specific follicular changes in the image are not typical of IgG4-related disease.

Q: A macrophage engulfs different cells as shown in the image. This is known as?

Emperipolesis. ***Emperipolesis*** - The image shows a large cell (likely a macrophage or megakaryocyte) containing **intact various blood cells** within its cytoplasm without signs of degeneration. - **Emperipolesis** is specifically defined as the **active penetration of one cell by another**, where both the engulfed and engulfing cells remain viable. *Phagocytosis* - **Phagocytosis** involves the ingestion and subsequent **destruction or degradation** of foreign particles, microorganisms, or cellular debris. - The cells within the macrophage in the image appear **morphologically intact** and not in a state of degradation. *Killing* - **Killing** implies the process by which a cell actively destroys another cell, often through mechanisms like **apoptosis or necrosis**. - There are **no morphological features** in the image to suggest that the engulfed cells are being actively killed or are undergoing degeneration. *Cytotoxicity* - **Cytotoxicity** refers to the ability of certain immune cells (e.g., cytotoxic T lymphocytes, NK cells) to **kill target cells**. - This process usually involves specific recognition and induction of target cell death, which is not what is depicted by the presence of intact cells within another cell.

Q: Which of the following hematological findings are seen in pregnant women with thalassemia trait?

Raised HbA₂ and low MCV. ***Raised HbA₂ and low MCV*** - Beta-thalassemia trait is characterized by a **compensatory increase in HbA₂** (alpha2-delta2 globin chains) synthesis and **microcytic (low MCV)** red blood cells [1]. - This combination is a classic finding that helps differentiate thalassemia trait from iron deficiency anemia in pregnant women. *Low serum total iron binding capacity* - **Low total iron binding capacity (TIBC)** is typically seen in **anemia of chronic disease**, where iron stores are often adequate or high. - In thalassemia trait, iron stores are usually normal or increased, and TIBC is usually normal or slightly increased. *Low HbA₂ and raised MCV* - **Low HbA₂** is seen in alpha-thalassemia trait or iron deficiency anemia, not beta-thalassemia trait [2]. - **Raised MCV (macrocytosis)** is characteristic of conditions like **folate or B12 deficiency** or megaloblastic anemia, which is not associated with uncomplicated thalassemia trait [1]. *Low MCHC* - **Low MCHC (mean corpuscular hemoglobin concentration)** indicates hypochromic red blood cells and is found in various microcytic anemias, including **iron deficiency anemia** [1]. - While it can be present in thalassemia trait, it is not as specific as the combination of **raised HbA₂** and **low MCV** for distinguishing beta-thalassemia trait from other microcytic conditions [2]. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 588-591. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 649-650.

Question 1

The image shows:

Accepted Answer

Thalassemia

Answer

Hereditary spherocytosis

Answer

Autoimmune hemolytic anemia

Answer

G6PD

Question 2

A 6-year-old Afro-American boy presents with acute abdomen and nonhealing ulcer on medial malleolus. Peripheral smear is shown. The most likely cause of this condition is:

Accepted Answer

Substitution of single amino acid base

Answer

Trinucleotide repeat

Answer

Antibody to RBC membrane

Answer

Genomic imprinting

Question 3

A 16-year-old female with pallor and hepatosplenomegaly presents to your clinic. Peripheral smear shows:

Accepted Answer

Thalassemia intermedia

Answer

Iron-deficiency anemia

Answer

Autoimmune hemolytic anemia

Answer

Megaloblastic anemia

Question 4

A 7-year-old boy presents with fever and weight loss. On examination he had pallor with lymphadenopathy. Peripheral smear is shown below. Diagnosis is: (AIIMS May 2017)

Accepted Answer

ALL

Answer

AML

Answer

Aplastic anemia

Answer

Juvenile myelomonocytic leukemia

Question 5

A patient presents with a solitary bone lesion. Histopathological examination shows the following microscopic features. What is the most likely diagnosis?

Accepted Answer

Unifocal Langerhans cell histiocytosis

Answer

Monoclonal Gammopathy of unknown significance

Answer

Multiple myeloma

Answer

Paget's disease

Question 6

A patient presents with intermittent fever, no weight loss and enlarged retroperitoneal lymph nodes. Peripheral smear is normal. Gross sample and its histopathology slide is shown below. Comment on the diagnosis.

Accepted Answer

Castleman disease

Answer

Non-Hodgkin's lymphoma

Answer

Angiolymphoid hyperplasia

Answer

IgG4 related disease

Question 7

A macrophage engulfs different cells as shown in the image. This is known as?

Accepted Answer

Emperipolesis

Answer

Phagocytosis

Answer

Killing

Answer

Cytotoxicity

Question 8

Which of the following hematological findings are seen in pregnant women with thalassemia trait?

Accepted Answer

Raised HbA₂ and low MCV

Answer

Low serum total iron binding capacity

Answer

Low MCHC

Answer

Low HbA₂ and raised MCV

Question 9

Which of the following are metabolic causes of splenic enlargement?

Accepted Answer

Amyloid and Gaucher's disease

Answer

Porphyria and Felty's syndrome

Answer

Myelofibrosis and Weil's disease

Answer

Rickets and Still's disease

Question 10

Folic acid deficiency is characterized by the following features except

Accepted Answer

Microcytes

Answer

Macrocytes

Answer

Howell-Jolly bodies

Answer

Hypersegmented neutrophils

Hematopathology — MCQs

Hematopathology — MCQs

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