Hematology Practice Questions

Q: A 7-year-old girl with sickle cell anemia presents with extreme fatigue and pallor. Her parents report that several classmates had recent rashes and bright red cheeks. On examination, the conjunctiva, gums, and nail beds are pale, and tachycardia is noted. A CBC reveals a 2 g/dL drop in hemoglobin from her last result 3 months ago, with a reticulocyte count of 0.05%. What is the most likely diagnosis?

Aplastic crisis from parvovirus B19 infection. **Explanation:** The clinical presentation is a classic case of **Transient Aplastic Crisis (TAC)** triggered by **Parvovirus B19**. In patients with high red cell turnover (like Sickle Cell Anemia), Parvovirus B19 is particularly dangerous because it infects and lyses **erythroid progenitor cells** by binding to the **P-antigen** (globoside). The hallmark of an aplastic crisis is a sudden drop in hemoglobin accompanied by an **inappropriately low reticulocyte count** (<1%), indicating bone marrow failure rather than hemolysis. The mention of "bright red cheeks" in classmates refers to **Erythema Infectiosum (Fifth Disease)**, the common pediatric presentation of Parvovirus B19. **Analysis of Incorrect Options:** * **B. Coxsackievirus B:** While a common cause of viral myocarditis and pericarditis, it does not typically cause bone marrow suppression or aplastic crises. * **C. Norovirus:** This is a leading cause of viral gastroenteritis. While it causes vomiting and diarrhea, it does not target erythroid precursors or cause acute drops in hemoglobin. * **D. Coltivirus:** This is the causative agent of Colorado Tick Fever. While it can cause a mild leukopenia, it is not associated with aplastic crises in sickle cell patients. **NEET-PG High-Yield Pearls:** * **Receptor:** Parvovirus B19 uses the **P-antigen** on RBCs. * **Morphology:** Look for **"Giant Pronormoblasts"** with viral inclusions in the bone marrow. * **Other Manifestations:** Hydrops fetalis (in pregnancy), symmetric polyarthritis (in adults), and "Slapped Cheek" rash. * **Key Lab Finding:** The **reticulocytopenia** is the "clincher" to differentiate aplastic crisis from a sequestration or hemolytic crisis.

Q: Which of the following is NOT a feature of TAR syndrome?

Ventricular septal defect. **Explanation:** **TAR Syndrome (Thrombocytopenia-Absent Radius)** is a rare genetic disorder characterized by the hallmark association of bilateral radial aplasia and a low platelet count. 1. **Why Option C is the correct answer:** While approximately 33% of patients with TAR syndrome have congenital heart defects, the most common cardiac anomaly is **Tetralogy of Fallot (TOF)** or **Atrial Septal Defect (ASD)**. Ventricular Septal Defect (VSD) is not a classic or defining feature of this syndrome, making it the "least likely" or "not a feature" in a comparative MCQ context. 2. **Analysis of Incorrect Options:** * **A. Thrombocytopenia:** This is a mandatory feature. It is usually most severe in the first year of life and may improve over time. * **B. Multiple skeletal anomalies:** The defining feature is **bilateral absence of the radius**. Crucially, unlike Fanconi Anemia, the **thumbs are always present** in TAR syndrome. Other anomalies can include ulnar or humeral hypoplasia and lower limb defects (e.g., dislocated hips). * **D. Autosomal recessive inheritance:** TAR syndrome follows an autosomal recessive pattern, typically involving a microdeletion on chromosome **1q21.1** combined with a specific mutation in the **RBM8A gene**. **High-Yield Clinical Pearls for NEET-PG:** * **The "Thumb" Rule:** In TAR syndrome, the **thumb is present**. In Fanconi Anemia and Holt-Oram Syndrome, the thumb is typically absent or hypoplastic. * **Hematology:** Platelet counts usually stabilize after the first year of life. * **Leukemoid Reaction:** Patients may show an extremely high WBC count (mimicking leukemia) during infancy. * **Cow’s Milk Allergy:** There is a known high association between TAR syndrome and cow's milk intolerance.

Q: Which condition has an autosomal dominant inheritance pattern?

Diamond blackfan anaemia. The correct answer is **Diamond-Blackfan Anaemia (DBA)**. This condition is a congenital pure red cell aplasia characterized by macrocytic anemia, reticulocytopenia, and a selective decrease in erythroid precursors in the bone marrow. **1. Why Diamond-Blackfan Anaemia is correct:** DBA is primarily inherited in an **Autosomal Dominant (AD)** pattern. It is caused by mutations in genes encoding ribosomal proteins (most commonly **RPS19**), leading to "ribosomal stress" and p53-mediated apoptosis of erythroid progenitor cells. Approximately 25% of patients also present with physical anomalies (triphalangeal thumbs, craniofacial defects). **2. Why the other options are incorrect:** * **Schwachman-Diamond Syndrome (SDS):** This is an **Autosomal Recessive (AR)** disorder characterized by exocrine pancreatic insufficiency and bone marrow failure (neutropenia). * **Dyskeratosis Congenita:** This is genetically heterogeneous but most commonly follows an **X-linked Recessive** pattern (DKC1 gene). While AD and AR forms exist, it is classically taught as X-linked in the context of the "triad" (nail dystrophy, leukoplakia, hyperpigmentation). * **Congenital Amegakaryocytic Thrombocytopenia (CAMT):** This is an **Autosomal Recessive (AR)** disorder caused by a mutation in the *MPL* gene (thrombopoietin receptor), leading to severe isolated thrombocytopenia at birth. **Clinical Pearls for NEET-PG:** * **DBA vs. TEC:** Transient Erythroblastopenia of Childhood (TEC) is an acquired mimic of DBA but occurs in older children (>1 year) and has no physical anomalies. * **Thumb Anomalies:** Both DBA and Fanconi Anemia (AR) feature thumb deformities; however, DBA is a pure red cell aplasia, while Fanconi is a pancytopenia. * **Biochemical Marker:** Elevated **Erythrocyte Adenosine Deaminase (eADA)** levels are a high-yield diagnostic marker for DBA.

Q: An 8-month-old male infant is brought in for routine checkup. The child is pale, with a hemoglobin level of 9 g/dL, mean corpuscular volume of 65 fL, increased total iron binding capacity, and low serum iron. The infant was breastfed for three months, followed by cow's milk substitute. For the last two months, fruits and vegetables have been introduced, but not eggs or milk. What is the best treatment?

Dietary modification and iron supplementation. **Explanation:** The infant presents with classic features of **Iron Deficiency Anemia (IDA)**: microcytic (MCV 65 fL), hypochromic anemia with low serum iron and elevated Total Iron Binding Capacity (TIBC). The primary etiology here is nutritional, specifically the early introduction of cow’s milk (before 12 months) and a lack of iron-rich complementary foods. **1. Why Option D is Correct:** The management of nutritional IDA requires a two-pronged approach. **Iron supplementation** (typically 3–6 mg/kg/day of elemental iron) is essential to replenish depleted iron stores and correct the hemoglobin level. Simultaneously, **dietary modification** is crucial to prevent recurrence. This includes limiting cow's milk intake (which is low in iron and can cause occult GI blood loss) and introducing iron-fortified cereals, meats, or legumes. **2. Why Other Options are Wrong:** * **Option A:** Multivitamins do not contain sufficient elemental iron to treat established anemia. * **Option B:** While diet is important, dietary changes alone are too slow to correct significant anemia (Hb 9 g/dL) and cannot efficiently replenish bone marrow iron stores. * **Option C:** Iron supplementation alone treats the symptom but fails to address the underlying cause (poor diet/excessive cow's milk), leading to a high risk of relapse once the supplement is stopped. **Clinical Pearls for NEET-PG:** * **Cow’s Milk:** Should not be started before **1 year of age** due to low iron bioavailability and risk of microscopic intestinal bleeding. * **Screening:** AAP recommends universal screening for anemia at **12 months** of age. * **Response to Iron:** The earliest sign of response to iron therapy is an increase in **reticulocyte count** (peaks in 5–10 days), followed by a rise in hemoglobin. * **Duration:** Iron therapy should continue for **2–3 months after** hemoglobin normalizes to replenish ferritin stores.

Q: Which of the following statements about Schwachman-Diamond syndrome is false?

Splenomegaly. **Explanation:** **Shwachman-Diamond Syndrome (SDS)** is an autosomal recessive multisystem disorder characterized by **exocrine pancreatic insufficiency** and **bone marrow failure**. **Why Splenomegaly is the Correct Answer (False Statement):** In SDS, the bone marrow is typically hypocellular, leading to pancytopenia. Unlike certain storage disorders or hemolytic anemias, SDS is **not** associated with splenomegaly. In fact, the spleen is often small or functionally hyposplenic in these patients. The presence of significant splenomegaly should prompt a clinician to look for alternative diagnoses, such as Gaucher disease or leukemia. **Analysis of Other Options:** * **Bleeding (Option A):** This is a common early manifestation due to **thrombocytopenia** (low platelet count), which is often the first hematologic abnormality to appear in infancy. * **Infections (Option C):** Neutropenia (either persistent or cyclic) is the most common cytopenia in SDS, making these patients highly susceptible to recurrent bacterial infections, pneumonia, and skin abscesses. * **Hypocellular Bone Marrow (Option D):** This is a hallmark of the disease. The marrow shows reduced cellularity with fatty infiltration, eventually progressing to aplastic anemia in some cases. **NEET-PG High-Yield Pearls for SDS:** 1. **Genetics:** Most commonly due to mutations in the **SBDS gene** on chromosome 7. 2. **Clinical Triad:** Exocrine pancreatic insufficiency (steatorrhea/malabsorption), bone marrow dysfunction (pancytopenia), and skeletal abnormalities (metaphyseal dysostosis). 3. **Diagnosis:** Low serum trypsinogen and fecal elastase levels; sweat chloride test is **normal** (distinguishes it from Cystic Fibrosis). 4. **Malignancy Risk:** High risk of transformation to **Acute Myeloid Leukemia (AML)** or Myelodysplastic Syndrome (MDS).

Q: What is the hemoglobin cutoff to define anemia in children aged 5-11 years?

11.5 g/dL. The definition of anemia in children is based on age-specific hemoglobin (Hb) thresholds, as normal physiological levels fluctuate during growth. According to the **WHO criteria**, the cutoff for children aged **5 to 11 years** is **11.5 g/dL**. ### Explanation of Options: * **Option B (11.5 g/dL) - Correct:** This is the established WHO threshold for children in the late preschool and early school-age group (5–11 years). Any value below this indicates anemia. * **Option A (11 g/dL) - Incorrect:** This is the cutoff for children aged **6 months to 59 months (5 years)** and also for **pregnant women**. * **Option C (12 g/dL) - Incorrect:** This threshold applies to children aged **12 to 14 years** and **non-pregnant adult females**. * **Option D (13 g/dL) - Incorrect:** This is the cutoff for **adult males** (15 years and older). ### High-Yield Clinical Pearls for NEET-PG: * **Physiological Anemia of Infancy:** Occurs at **2–3 months** of age (Hb ~9–11 g/dL) due to decreased erythropoiesis and shorter RBC lifespan. * **Anemia of Prematurity:** Occurs earlier (**3–6 weeks**) and is more severe. * **Most Common Cause:** Iron Deficiency Anemia (IDA) remains the most common cause of pediatric anemia worldwide. * **Diagnostic Tip:** In IDA, the Mentzer Index (MCV/RBC count) is typically **>13**, whereas in Thalassemia trait, it is **<13**. **Summary Table for Quick Revision:** | Age Group | Hb Cutoff (g/dL) | | :--- | :--- | | 6–59 months | 11.0 | | **5–11 years** | **11.5** | | 12–14 years | 12.0 | | Adult Females | 12.0 | | Adult Males | 13.0 |

Q: A one-year-old baby, exclusively breastfed, presents with pallor, hepatomegaly, and no splenomegaly. What is the most important investigation?

Serum iron estimation. **Explanation:** The clinical presentation of a one-year-old child with pallor and hepatomegaly without splenomegaly, especially with a history of **exclusive breastfeeding**, is a classic scenario for **Iron Deficiency Anemia (IDA)**. Breast milk has low iron content, and physiological iron stores are typically exhausted by 4–6 months of age. If complementary feeding (weaning) is not started timely, IDA develops. **Why Serum Iron Estimation is correct:** In the context of nutritional anemia in infants, IDA is the most common cause worldwide. While both IDA and Megaloblastic anemia can cause pallor, the absence of splenomegaly and the specific age group strongly point toward IDA. Serum iron estimation (along with Serum Ferritin and TIBC) is the gold standard for confirming iron deficiency. **Analysis of Incorrect Options:** * **Vitamin B12 & Folic Acid Estimation:** While exclusive breastfeeding can lead to B12 deficiency if the mother is a strict vegetarian, Megaloblastic anemia often presents with hyperpigmentation of knuckles and neurological symptoms. IDA is statistically more prevalent in this demographic. * **Fetal Hemoglobin (HbF) Estimation:** This is used to diagnose Thalassemia. However, Thalassemia major typically presents with **significant splenomegaly** (due to extramedullary hematopoiesis) and a "chipmunk facies," which are absent here. **Clinical Pearls for NEET-PG:** * **Most common cause of anemia in India:** Iron Deficiency Anemia. * **Milk & Iron:** Cow’s milk is a poor source of iron and can cause occult GI blood loss in infants. * **Hepatomegaly in IDA:** Mild hepatomegaly can occur in severe nutritional anemia due to fatty changes or congestive heart failure, but **splenomegaly** is usually absent. * **Mentzer Index:** (MCV/RBC count) 13 suggests IDA.

Q: A 3-month-old infant has suffered recurrent episodes of fever, skin pustules, and pneumonia since the first week of life. Repeated blood counts have shown the absolute neutrophil count (ANC) to be less than 500/mm3, whereas hemoglobin and platelet count are normal. What is the most likely diagnosis?

Kostmann disease. **Explanation:** The clinical presentation of recurrent bacterial infections (pustules, pneumonia, fever) starting in early infancy, combined with isolated severe neutropenia (ANC < 500/mm³), is classic for **Kostmann disease** (Severe Congenital Neutropenia). 1. **Why Kostmann Disease is correct:** It is an autosomal recessive disorder characterized by a maturation arrest of neutrophil precursors in the bone marrow at the promyelocyte/myelocyte stage. This leads to persistent, profound neutropenia from birth, making infants highly susceptible to life-threatening pyogenic infections. 2. **Why other options are incorrect:** * **Aplastic Anemia:** This involves pancytopenia (low RBCs, WBCs, and platelets). The question specifies that hemoglobin and platelet counts are normal. * **Congenital Leukemia:** This typically presents with hepatosplenomegaly, lymphadenopathy, and "blueberry muffin" skin nodules. While it can cause neutropenia, it usually shows blasts on a peripheral smear and abnormal counts in other cell lines. * **Cyclic Neutropenia:** In this condition, neutropenia occurs in regular cycles (typically every 21 days). Between cycles, the ANC improves. The persistent nature of the low ANC since the first week of life in this infant points toward Kostmann disease rather than a cyclic pattern. **High-Yield Clinical Pearls for NEET-PG:** * **Genetic Mutation:** The most common mutation in Severe Congenital Neutropenia is **ELANE** (autosomal dominant), though the term "Kostmann" specifically refers to the **HAX1** mutation (autosomal recessive). * **Bone Marrow Finding:** Characterized by **"Maturation Arrest"** at the promyelocyte stage. * **Treatment:** Recombinant human Granulocyte Colony-Stimulating Factor (**G-CSF**) is the mainstay. * **Risk:** These patients have a significantly increased risk of developing **AML** (Acute Myeloid Leukemia) or MDS.

Question 1

A 7-year-old girl with sickle cell anemia presents with extreme fatigue and pallor. Her parents report that several classmates had recent rashes and bright red cheeks. On examination, the conjunctiva, gums, and nail beds are pale, and tachycardia is noted. A CBC reveals a 2 g/dL drop in hemoglobin from her last result 3 months ago, with a reticulocyte count of 0.05%. What is the most likely diagnosis?

Accepted Answer

Aplastic crisis from parvovirus B19 infection

Answer

Pericarditis caused by Coxsackievirus B

Answer

Gastroenteritis with bleeding caused by Norovirus

Answer

Exacerbated anemia from Colti virus infection

Question 2

Which of the following is NOT a feature of TAR syndrome?

Accepted Answer

Ventricular septal defect

Answer

Thrombocytopenia

Answer

Multiple skeletal anomalies

Answer

Autosomal recessive type of inheritance

Question 3

Which condition has an autosomal dominant inheritance pattern?

Accepted Answer

Diamond blackfan anaemia

Answer

Schwachman diamond syndrome

Answer

Dyskeratosis congenita

Answer

Congenital amegakaryocytic thrombocytopenia

Question 4

An 8-month-old male infant is brought in for routine checkup. The child is pale, with a hemoglobin level of 9 g/dL, mean corpuscular volume of 65 fL, increased total iron binding capacity, and low serum iron. The infant was breastfed for three months, followed by cow's milk substitute. For the last two months, fruits and vegetables have been introduced, but not eggs or milk. What is the best treatment?

Accepted Answer

Dietary modification and iron supplementation

Answer

Multivitamins

Answer

Dietary modification alone

Answer

Iron supplementation alone

Question 5

Which of the following statements about Schwachman-Diamond syndrome is false?

Accepted Answer

Splenomegaly

Answer

Bleeding is the most common early symptom

Answer

Infections

Answer

Hypocellular bone marrow

Question 6

A child with Thalassemia major, treated for cardiac arrhythmia due to iron overload, presents for regular transfusion. During the transfusion, the child becomes anxious and complains of back pain. What is the immediate next step in management?

Accepted Answer

Stop the transfusion and check for clerical errors

Answer

Perform an ECG

Answer

Continue transfusion while monitoring vital signs

Answer

Check for reddish discoloration of urine

Question 7

A newborn baby presented with profuse bleeding from the umbilical stump. The rest of the examination and PT, APTT are within normal limits. What is the most probable diagnosis?

Accepted Answer

Glanzmann thrombasthenia

Answer

Factor X deficiency

Answer

Von Willebrand disease

Answer

Bernard-Soulier disease

Question 8

What is the hemoglobin cutoff to define anemia in children aged 5-11 years?

Accepted Answer

11.5 g/dL

Answer

11 g/dL

Answer

12 g/dL

Answer

13 g/dL

Question 9

A one-year-old baby, exclusively breastfed, presents with pallor, hepatomegaly, and no splenomegaly. What is the most important investigation?

Accepted Answer

Serum iron estimation

Answer

Vitamin B12 estimation

Answer

Folic acid estimation

Answer

Fetal hemoglobin estimation

Question 10

A 3-month-old infant has suffered recurrent episodes of fever, skin pustules, and pneumonia since the first week of life. Repeated blood counts have shown the absolute neutrophil count (ANC) to be less than 500/mm3, whereas hemoglobin and platelet count are normal. What is the most likely diagnosis?

Accepted Answer

Kostmann disease

Answer

Aplastic anemia

Answer

Congenital leukemia

Answer

Cyclic neutropenia

Hematology — MCQs

Hematology — MCQs

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