Hematopathology Practice Questions

Q: All are features of hemolytic anemia except?

Thrombocytopenia. Explanation: Hemolytic anemia is characterized by the premature destruction of red blood cells (RBCs) [1]. The hallmarks of this condition are related to the release of intracellular contents and the body’s compensatory response to anemia. Why Thrombocytopenia is the correct answer: Thrombocytopenia (low platelet count) is **not** a standard feature of hemolytic anemia. In most hemolytic processes, the pathology is specific to the erythrocyte lineage. While certain conditions like Evans Syndrome (AIHA + ITP) or Microangiopathic Hemolytic Anemias (TTP/HUS) involve both low RBCs and platelets, they are specific syndromes rather than general features of hemolysis [2]. Why the other options are incorrect: * **Decreased Haptoglobin:** Haptoglobin is a transport protein that binds to free hemoglobin. In intravascular hemolysis, haptoglobin is rapidly consumed as it clears hemoglobin, making it a highly sensitive marker for hemolysis. * **Raised Indirect Bilirubin:** When RBCs break down, heme is converted into unconjugated (indirect) bilirubin. The liver's conjugating capacity is overwhelmed, leading to unconjugated hyperbilirubinemia and clinical jaundice. * **Hemosiderinuria:** In chronic intravascular hemolysis, filtered hemoglobin is reabsorbed by renal tubular cells. When these cells slough off into the urine, they contain iron deposits (hemosiderin), which can be detected by Prussian blue staining. NEET-PG High-Yield Pearls: * **Best initial test for hemolysis:** Peripheral smear (look for schistocytes or spherocytes) and Reticulocyte count (will be elevated). * **Most specific marker for intravascular hemolysis:** Low serum Haptoglobin. * **Intravascular vs. Extravascular:** Hemoglobinuria and Hemosiderinuria are features of **intravascular** hemolysis only. Splenomegaly is more common in **extravascular** hemolysis [1]. * **LDH:** Serum Lactate Dehydrogenase is typically elevated due to release from ruptured RBCs.

Q: Ring sideroblasts in myelodysplastic syndrome are associated with mutations in which gene?

SF3B1. **Explanation:** **Correct Answer: D. SF3B1** The presence of **ring sideroblasts** (erythroblasts with iron-laden mitochondria encircling the nucleus) is a hallmark of specific subtypes of Myelodysplastic Syndrome (MDS). The **SF3B1** (*Splicing Factor 3b Subunit 1*) gene mutation is highly specific for MDS with ring sideroblasts (MDS-RS). This gene encodes a core component of the RNA splicing machinery (spliceosome) [1]. Mutations lead to aberrant splicing of iron transporters (like *ABCB7*), causing mitochondrial iron accumulation. In the revised WHO/ICC classifications, the presence of an SF3B1 mutation allows for the diagnosis of MDS-RS even if the ring sideroblast count is as low as 5% (compared to the usual 15% threshold). **Incorrect Options:** * **A. ASXL1:** An epigenetic regulator. Mutations are common in MDS and AML but are associated with a **poor prognosis** and do not specifically correlate with ring sideroblasts [1]. * **B. EZH2:** Part of the Polycomb Repressive Complex 2 (PRC2). Mutations are linked to myelofibrosis and MDS but signify an adverse prognosis rather than a specific morphological feature [1]. * **C. TET2:** One of the most common mutations in MDS and Clonal Hematopoiesis of Indeterminate Potential (CHIP). It involves DNA demethylation; while common, it is not specific to the sideroblastic phenotype [1]. **High-Yield Clinical Pearls for NEET-PG:** * **Stain for Ring Sideroblasts:** Perls’ Prussian Blue stain. * **Definition:** ≥5 granules covering at least 1/3rd of the nuclear circumference. * **Prognostic Value:** SF3B1 mutations in MDS are generally associated with a **favorable prognosis** and lower risk of transformation to AML. * **Treatment:** Luspatercept is a newer agent used specifically for anemia in MDS-RS patients. **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, pp. 622-624.

Q: A 26-year-old African-American pilot develops anemia, hemoglobinemia, and hemoglobinuria several days after beginning primaquine chemoprophylaxis for Plasmodium vivax malaria. Special studies will likely reveal an abnormality in which of the following?

G6PD. **Explanation:** The clinical presentation of anemia, hemoglobinemia, and hemoglobinuria following the administration of **Primaquine** is a classic manifestation of **Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency**. **1. Why G6PD is correct:** G6PD is the rate-limiting enzyme in the Pentose Phosphate Pathway, responsible for generating **NADPH**. NADPH is essential for maintaining a pool of reduced **glutathione**, which protects red blood cells (RBCs) from oxidative stress. Primaquine is an oxidizing agent. In G6PD-deficient individuals (common in African-American and Mediterranean populations), the RBCs cannot neutralize the oxidative stress caused by the drug, leading to the denaturation of hemoglobin (**Heinz bodies**), damage to the RBC membrane (**Bite cells**), and subsequent intravascular hemolysis. **2. Why other options are incorrect:** * **Duffy antigen:** Absence of this antigen on RBCs provides resistance to *Plasmodium vivax* infection, as the parasite uses it as a receptor for entry. It is not related to drug-induced hemolysis. * **Intrinsic factor:** Deficiency leads to Vitamin B12 malabsorption and Megaloblastic (Pernicious) anemia, not acute hemolytic anemia. * **PIG-A:** Mutations in the PIG-A gene lead to **Paroxysmal Nocturnal Hemoglobinuria (PNH)** due to a deficiency of GPI-anchored proteins (CD55/CD59). While it causes hemoglobinuria, it is not triggered by Primaquine. **High-Yield NEET-PG Pearls:** * **Inheritance:** G6PD deficiency is an **X-linked recessive** disorder. * **Morphology:** Look for **Heinz bodies** (denatured Hb) and **Bite cells** (degluticytes) on peripheral smear. * **Contraindication:** Always screen for G6PD deficiency before prescribing Primaquine or Dapsone. * **Primaquine's Role:** It is the drug of choice for the **radical cure** of *P. vivax* and *P. ovale* as it acts on **hypnozoites** (latent liver stages).

Question 1

All of the following are associated with Secondary Hemochromatosis except?

Accepted Answer

Paroxysmal Nocturnal Haemoglobinuria (PNH)

Answer

Thalassemia Major

Answer

Sideroblastic Anemia

Answer

Hereditary Spherocytosis

Question 2

Which of the following is not a finding in classical hemophilia (hemophilia A)?

Accepted Answer

Increased Prothrombin Time

Answer

Bleeding into soft tissues, muscles, and joints

Answer

Decreased factor VIII

Answer

Increased Partial Thromboplastin Time

Question 3

All are features of hemolytic anemia except?

Accepted Answer

Thrombocytopenia

Answer

Hemosiderinuria

Answer

Decreased haptoglobin

Answer

Raised indirect bilirubin

Question 4

Bence Jones proteins are:

Accepted Answer

Light chains of IgG

Answer

Heavy chains of IgG

Answer

Present in bone marrow

Answer

Seen in lymphoma

Question 5

Which of the following is NOT a feature of chronic leukemia?

Accepted Answer

Leukocytosis with circulating blasts and cytopenias are common

Answer

Often diagnosed incidentally

Answer

Splenomegaly is common

Answer

Lymphadenopathy is common

Question 6

A 33-year-old alcoholic patient on anti-tuberculosis treatment (ATT) presents with increased serum iron and increased transferrin saturation. What is the most likely diagnosis?

Accepted Answer

Sideroblastic anemia

Answer

Iron deficiency anemia

Answer

Megaloblastic anemia

Answer

Anemia of chronic disease

Question 7

Ring sideroblasts in myelodysplastic syndrome are associated with mutations in which gene?

Accepted Answer

SF3B1

Answer

ASXL1

Answer

EZH2

Answer

TET2

Question 8

A 16-year-old girl presents with bowel obstruction. Laparotomy reveals markedly enlarged para-aortic lymph nodes. Biopsy of the lymph nodes exhibits a diffuse neoplastic infiltrate of small, round lymphocytes with a 'starry sky' appearance on low power. The cytoplasm of some lymphocytes is vacuolated and fat stains are positive. What would you expect the neoplastic cells to demonstrate?

Accepted Answer

t(8;14) translocation

Answer

Positive non-specific esterase stain of the cells

Answer

Positive specific esterase stain of the cells

Answer

Low leukocyte alkaline phosphatase score

Question 9

A 26-year-old African-American pilot develops anemia, hemoglobinemia, and hemoglobinuria several days after beginning primaquine chemoprophylaxis for Plasmodium vivax malaria. Special studies will likely reveal an abnormality in which of the following?

Accepted Answer

G6PD

Answer

Duffy antigen

Answer

Intrinsic factor

Answer

PIG-A

Question 10

In Von Willebrand disease, what is the primary defect?

Accepted Answer

Defects in von Willebrand factor

Answer

Factor VII deficiency

Answer

Factor VIII C deficiency

Answer

Factor X deficiency

Hematopathology — MCQs

Hematopathology — MCQs

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