Hematology Practice Questions

Q: A newborn girl presents with severe Purpura Fulminans. Her elder sibling died of severe purpura fulminans at 1 year of age. Two other siblings are normal. What is the diagnosis?

Protein C deficiency. **Explanation:** The clinical presentation of a newborn with **Purpura Fulminans** and a family history of a sibling death due to the same condition strongly points toward **Homozygous Protein C Deficiency**. **1. Why Protein C Deficiency is correct:** Protein C is a natural anticoagulant that inactivates Factors Va and VIIIa. In the rare autosomal recessive homozygous state, there is a complete absence of Protein C. This leads to unchecked thrombin generation, resulting in microvascular thrombosis, skin necrosis (Purpura Fulminans), and disseminated intravascular coagulation (DIC) shortly after birth. The family history suggests an autosomal recessive inheritance pattern (affected siblings, normal parents). **2. Why other options are incorrect:** * **Hemophilia A:** An X-linked recessive disorder causing Factor VIII deficiency. It presents with deep tissue bleeds or hemarthrosis, not purpura fulminans or neonatal skin necrosis. * **Immune Thrombocytopenic Purpura (ITP):** Usually occurs in older children following a viral infection. While it causes petechiae/purpura, it does not cause the life-threatening thrombotic necrosis seen in Purpura Fulminans. * **Von Willebrand Disease (vWD):** The most common inherited bleeding disorder, typically presenting with mucosal bleeds (epistaxis, menorrhagia) rather than neonatal thrombosis. **Clinical Pearls for NEET-PG:** * **Management:** Acute treatment involves **Fresh Frozen Plasma (FFP)** or Protein C concentrate. Long-term management requires oral anticoagulation (Warfarin). * **Warfarin-Induced Skin Necrosis:** Patients with heterozygous Protein C deficiency are at risk for skin necrosis when starting Warfarin without heparin bridging. * **Differential Diagnosis:** Consider **Protein S deficiency** or **Antithrombin III deficiency** in neonatal thrombosis, though Protein C deficiency is the classic association with Purpura Fulminans.

Q: What is the proper management of a child with an absolute neutrophil count (ANC) of 100/mm3?

Start broad-spectrum intravenous antibiotics.. ### Explanation **1. Why Option A is Correct:** The patient has **severe neutropenia** (defined as ANC < 500/mm³). In pediatrics, severe neutropenia is a medical emergency because the body’s primary defense against bacterial invasion is compromised. Patients with an ANC of 100/mm³ are at extremely high risk for life-threatening sepsis, often from their own endogenous flora (e.g., *Pseudomonas aeruginosa*, *E. coli*). The standard of care is the immediate initiation of **empiric broad-spectrum intravenous antibiotics** (e.g., Ceftazidime, Cefepime, or Piperacillin-Tazobactam) to cover Gram-negative and Gram-positive organisms, even before culture results are available. **2. Why Other Options are Incorrect:** * **Option B:** While physical exams and X-rays are important, "observing closely" is dangerous. Neutropenic patients often fail to mount a typical inflammatory response (like pus formation or lung consolidation), making clinical signs unreliable. Delaying antibiotics increases mortality significantly. * **Option C:** Granulocyte transfusions are rarely used and are reserved for specific cases of documented infection unresponsive to antibiotics; they are never the first-line management. * **Option D:** Iron and B12 treat specific anemias but do not address the acute risk of sepsis associated with severe neutropenia. **3. Clinical Pearls for NEET-PG:** * **ANC Calculation:** Total WBC count × (% Neutrophils + % Bands). * **Neutropenia Grading:** * Mild: 1000–1500/mm³ * Moderate: 500–1000/mm³ * Severe: 38.3°C (101°F) or >38.0°C (100.4°F) for one hour in a patient with ANC < 500/mm³. * **Common Sites:** The mouth (stomatitis), perianal area, and skin are the most common sites of infection in these patients.

Q: A child presented with fever, anemia, lymphadenopathy, and hepatosplenomegaly. Which of the following is LEAST likely to be a cause?

Aplastic anemia. ### Explanation The clinical presentation of **fever, anemia, lymphadenopathy, and hepatosplenomegaly** suggests an **infiltrative or infectious process** involving the reticuloendothelial system. **Why Aplastic Anemia is the Correct Answer:** Aplastic anemia is characterized by **pancytopenia** due to bone marrow failure. Crucially, it is a "quiet" marrow disease. Because there is no abnormal cellular proliferation or infiltration, **organomegaly (hepatosplenomegaly) and lymphadenopathy are characteristically absent**. If these signs are present, an alternative diagnosis (like leukemia) must be considered. **Analysis of Incorrect Options:** * **Acute Lymphoblastic Leukemia (ALL):** This is the most common childhood malignancy. Malignant lymphoblasts infiltrate the bone marrow (causing anemia/fever) and the lymphoid tissues, leading to prominent lymphadenopathy and hepatosplenomegaly. * **Tuberculosis (TB):** Disseminated or miliary TB in children frequently presents with constitutional symptoms (fever, weight loss), anemia of chronic disease, and generalized lymphadenopathy with hepatosplenomegaly. * **Leishmaniasis (Kala-azar):** This protozoal infection is a classic cause of massive splenomegaly, hepatomegaly, and pancytopenia (including anemia) due to splenic sequestration and marrow infiltration. **Clinical Pearls for NEET-PG:** * **Rule of Thumb:** In a child with pancytopenia, the **presence of splenomegaly** points towards Leukemia or Gaucher’s disease, while its **absence** points towards Aplastic Anemia. * **Aplastic Anemia Triad:** Anemia (pallor), Leukopenia (infections), and Thrombocytopenia (mucosal bleeds/petechiae). * **Kala-azar:** Look for "hyperpigmentation" and "massive splenomegaly" in the clinical vignette.

Q: The likely diagnosis in a child presenting with limb pain and pancytopenia is:

Acute lymphocytic leukemia. **Explanation:** The clinical combination of **pancytopenia** and **bone/limb pain** in a child is a classic presentation for **Acute Lymphocytic Leukemia (ALL)**. 1. **Why ALL is correct:** ALL is the most common pediatric malignancy. Pancytopenia occurs due to the replacement of normal bone marrow elements by leukemic blasts (myelophthisis), leading to anemia, leukopenia, and thrombocytopenia. The **limb pain** (often severe enough to cause a limp or refusal to walk) is a hallmark feature caused by the expansion of the marrow cavity by leukemic cells or subperiosteal infiltration. 2. **Why other options are incorrect:** * **Aplastic Anemia:** While it presents with pancytopenia, it is characteristically **painless**. There is no infiltration of the bone or periosteum. * **Rheumatic Fever:** Presents with migratory polyarthritis (joint pain), but it does not cause pancytopenia. It is typically associated with leukocytosis and elevated ESR/CRP. * **Rheumatoid Arthritis (JIA):** Causes joint pain and swelling. While chronic disease may cause anemia of chronic inflammation, it does not lead to true pancytopenia. **High-Yield Clinical Pearls for NEET-PG:** * **Most common age:** 2–5 years. * **Bone Pain:** Present in ~25% of cases; often misdiagnosed as "growing pains" or juvenile idiopathic arthritis. * **Radiology:** Look for "Leukemic lines" (transverse metaphyseal radiolucent bands) on X-ray. * **Diagnosis:** Bone marrow aspiration showing **>20% blasts**. * **Prognosis:** ALL has an excellent cure rate (>90% in favorable subtypes). Hyperdiploidy and t(12;21) carry a good prognosis, while the Philadelphia chromosome t(9;22) carries a poor prognosis.

Q: A 4-month-old infant presents with anemia (hemoglobin 9.5 g/dL) and a normal MCV (77 fL). The infant is breastfed, shows normal growth parameters, and appears well. What is the most likely cause of her anemia?

Inadequate dietary iron. **Explanation:** The most likely cause of anemia in this 4-month-old infant is **inadequate dietary iron**. **1. Why Option A is Correct:** Full-term infants are born with iron stores sufficient for the first **4 to 6 months** of life. Breast milk, while highly bioavailable, contains very low concentrations of iron (approx. 0.3–0.5 mg/L). By 4 months of age, these endogenous stores begin to deplete. If there is no exogenous supplementation or introduction of iron-rich complementary foods, the infant develops **Iron Deficiency Anemia (IDA)**. In the early stages of IDA, the MCV may still be within the low-normal range (normocytic) before progressing to classic microcytic hypochromic anemia. **2. Why Other Options are Incorrect:** * **B. Hemolysis:** This would typically present with jaundice, hepatosplenomegaly, or an elevated reticulocyte count, none of which are mentioned. * **C. Late clamping of the umbilical cord:** This actually *increases* neonatal iron stores and protects against anemia in the first 6 months of life. * **D. Iron malabsorption:** This is rare in an otherwise healthy, well-growing infant and is usually associated with conditions like Celiac disease or chronic diarrhea. **Clinical Pearls for NEET-PG:** * **Physiological Anemia of Infancy:** Occurs at **8–12 weeks** (Hb ~11 g/dL) due to a drop in erythropoietin after birth; it is asymptomatic and requires no treatment. * **Preterm Infants:** Deplete iron stores much earlier (**by 2 months**) because most iron transfer occurs during the third trimester. * **MCV Norms:** In infants, the MCV is naturally lower than in adults (Normal at 4 months: 70–85 fL). * **Prophylaxis:** Exclusively breastfed full-term infants should start oral iron supplementation (1 mg/kg/day) at **4 months** of age.

Q: What is the most common inherited form of aplastic anemia?

Fanconi anemia. **Explanation:** **Fanconi Anemia (FA)** is the most common cause of inherited (constitutional) aplastic anemia. It is primarily an autosomal recessive disorder characterized by a defect in **DNA repair** (specifically, the repair of DNA interstrand cross-links). This leads to progressive bone marrow failure, typically manifesting in the first decade of life (median age 7–8 years). **Why the other options are incorrect:** * **Shwachman-Diamond Syndrome:** This is the second most common inherited cause of pancreatic insufficiency (after Cystic Fibrosis). While it involves bone marrow failure, it typically presents first with **neutropenia** and skeletal abnormalities, rather than generalized aplastic anemia. * **Diamond-Blackfan Anemia:** This is a **pure red cell aplasia**, not a generalized aplastic anemia. It presents early in infancy (usually <1 year) with macrocytic anemia and normal leukocyte/platelet counts. * **Dyskeratosis Congenita:** This is a rare telomere biology disorder. While it causes aplastic anemia, it is less common than Fanconi Anemia and is characterized by a classic triad of abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. **High-Yield Clinical Pearls for NEET-PG:** * **Physical Findings in FA:** Short stature, **absent or hypoplastic thumbs/radius**, microcephaly, and café-au-lait spots. * **Gold Standard Diagnosis:** **Chromosomal Breakage Analysis** using Clastogenic agents like Diepoxybutane (DEB) or Mitomycin C. * **Malignancy Risk:** Patients have a significantly increased risk of developing **AML** and squamous cell carcinomas (head, neck, and anogenital). * **Treatment:** Hematopoietic Stem Cell Transplant (HSCT) is the definitive treatment for hematologic manifestations.

Q: In infants, from which bone is a bone marrow biopsy typically performed?

Tibia. **Explanation:** The site for bone marrow aspiration and biopsy varies significantly with age due to the conversion of red (hematopoietic) marrow to yellow (fatty) marrow. **1. Why Tibia is Correct:** In **infants (children <1 year of age)**, the **upper third of the tibia** (anteromedial surface, just below the tibial tuberosity) is the preferred site. This is because the tibia contains active red marrow in infancy and is easily accessible, superficial, and provides a stable surface for the procedure. **2. Analysis of Incorrect Options:** * **Posterior Superior Iliac Spine (PSIS):** This is the **most common overall site** for bone marrow biopsy in adults and children older than 1–2 years. In infants, however, the iliac bone is thin and not yet fully ossified, making it less ideal than the tibia. * **Sternum:** This is a common site in adults but is **strictly contraindicated in children**. The sternal plate in infants is very thin and the underlying mediastinal structures (heart and great vessels) are at high risk of fatal puncture. * **Iliac Crest (Anterior):** While it can be used if the patient cannot be turned prone, it is generally less preferred than the PSIS due to a thicker cortical bone layer. **3. NEET-PG High-Yield Pearls:** * **Preferred site 1–2 years & Adults:** Posterior Superior Iliac Spine (PSIS). * **Site for Intraosseous (IO) access in emergencies:** Proximal Tibia (same as biopsy site in infants). * **Marrow Conversion:** Red marrow is replaced by yellow marrow in a centripetal direction (from distal limbs toward the axial skeleton) as a child grows.

Q: An otherwise healthy 1-year-old child has a routine CBC revealing polymorphonuclear neutrophils as shown below. Which of the following is the most appropriate next step?

Begin folic acid supplementation. ***Begin folic acid supplementation*** - **Hypersegmented neutrophils** (PMNs with ≥5 lobes) are the hallmark finding of **megaloblastic anemia**, indicating folate or B12 deficiency. - In a **1-year-old infant**, **folate deficiency** is the most common cause of megaloblastic anemia, making folic acid supplementation the appropriate first-line treatment. *Bone marrow aspiration* - This invasive procedure is unnecessary when **hypersegmented neutrophils** already provide clear evidence of megaloblastic anemia. - Bone marrow aspiration would only be considered if there were concerns about **malignancy** or other hematologic disorders, which is not indicated here. *Begin oral iron therapy* - **Iron deficiency anemia** presents with **microcytic hypochromic** red blood cells, not hypersegmented neutrophils. - Iron therapy would not address the underlying **folate deficiency** causing the megaloblastic changes observed. *Hemoglobin electrophoresis* - This test is used to diagnose **hemoglobinopathies** like sickle cell disease or thalassemia, not megaloblastic anemia. - **Hypersegmented neutrophils** are not associated with hemoglobin variants and would not be corrected by identifying hemoglobinopathies.

Question 1

A newborn girl presents with severe Purpura Fulminans. Her elder sibling died of severe purpura fulminans at 1 year of age. Two other siblings are normal. What is the diagnosis?

Accepted Answer

Protein C deficiency

Answer

Hemophilia A

Answer

Immune Thrombocytopenic Purpura (ITP)

Answer

Von Willebrand disease (vWD)

Question 2

What is the proper management of a child with an absolute neutrophil count (ANC) of 100/mm3?

Accepted Answer

Start broad-spectrum intravenous antibiotics.

Answer

Perform a careful physical examination and chest radiograph; observe closely pending results of blood cultures.

Answer

Administer granulocyte transfusion.

Answer

Provide nutritional support with oral iron and intramuscular vitamin B12.

Question 3

A child presented with fever, anemia, lymphadenopathy, and hepatosplenomegaly. Which of the following is LEAST likely to be a cause?

Accepted Answer

Aplastic anemia

Answer

Acute lymphoblastic leukemia (ALL)

Answer

Tuberculosis (TB)

Answer

Leishmaniasis

Question 4

The likely diagnosis in a child presenting with limb pain and pancytopenia is:

Accepted Answer

Acute lymphocytic leukemia

Answer

Aplastic anemia

Answer

Rheumatic fever

Answer

Rheumatoid arthritis

Question 5

A 4-month-old infant presents with anemia (hemoglobin 9.5 g/dL) and a normal MCV (77 fL). The infant is breastfed, shows normal growth parameters, and appears well. What is the most likely cause of her anemia?

Accepted Answer

Inadequate dietary iron

Answer

Hemolysis

Answer

Late clamping of the umbilical cord

Answer

Iron malabsorption

Question 6

What is the most common inherited form of aplastic anemia?

Accepted Answer

Fanconi anemia

Answer

Shwachman-Diamond syndrome

Answer

Diamond-Blackfan anemia

Answer

Dyskeratosis congenita

Question 7

A nine-month-old boy presented with progressive lethargy, irritability, and pallor since 6 months of age. Examination revealed severe pallor. Investigations showed Hb 3.8 mg/dL, MCV 58 fL, MCH 19.4 pg/cell. Blood film shows normal osmotic fragility, target cells, and normoblasts. X-ray skull shows expansion of the erythroid marrow. Which of the following is the most likely diagnosis?

Accepted Answer

Iron deficiency anemia

Answer

Acute lymphoblastic leukemia

Answer

Hemoglobin D disease

Answer

Hereditary spherocytosis

Question 8

In infants, from which bone is a bone marrow biopsy typically performed?

Accepted Answer

Tibia

Answer

Sternum

Answer

Posterior superior iliac spine

Answer

Iliac crest

Question 9

An 18-month-old boy presented with a tender, swollen, warm right knee with significant hemarthrosis after an injury. His PT is 12 seconds (normal, 13 seconds), PTT is over 100 seconds (normal, 25 seconds), platelet count is 300,000/mm
3, and bleeding time is normal. What should be the initial management?

Accepted Answer

Factor VIII concentrate

Answer

Fresh-frozen plasma

Answer

Aspiration of knee

Answer

Passive exercise

Question 10

An otherwise healthy 1-year-old child has a routine CBC revealing polymorphonuclear neutrophils as shown below. Which of the following is the most appropriate next step?

Accepted Answer

Begin folic acid supplementation

Answer

Bone marrow aspiration

Answer

Begin oral iron therapy

Answer

Hemoglobin electrophoresis

Hematology — MCQs

Hematology — MCQs

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