Hematology Practice Questions

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.

Q: Which of the following is false regarding Kasabach syndrome?

Coagulopathy is absent.. **Explanation:** **Kasabach-Merritt Syndrome (KMS)** is a rare, life-threatening condition characterized by the association of a rapidly growing vascular tumor with **consumptive coagulopathy**. **1. Why Option B is the Correct Answer (The False Statement):** The hallmark of Kasabach-Merritt Syndrome is severe **consumptive coagulopathy**. Within the abnormal architecture of the vascular tumor, there is intense platelet sequestration and activation of the clotting cascade. This leads to the depletion of platelets, fibrinogen, and other clotting factors, often resulting in Disseminated Intravascular Coagulation (DIC). Therefore, stating that coagulopathy is absent is medically incorrect. **2. Analysis of Other Options:** * **Options A & C:** KMS typically arises as a complication of specific vascular tumors. While historically associated with "giant hemangiomas," it is now more accurately linked to **Kaposiform hemangioendothelioma** or **Tufted angioma**. * **Option D:** **Thrombocytopenia** is a cardinal feature. Platelets are trapped and destroyed within the tumor (sequestration), leading to profound low platelet counts and a high risk of spontaneous bleeding. **High-Yield Clinical Pearls for NEET-PG:** * **Classic Triad:** Large vascular tumor + Thrombocytopenia + Consumptive Coagulopathy (low fibrinogen, elevated D-dimer). * **Most Common Site:** Trunk and extremities; however, it can occur retroperitoneally. * **Treatment:** The first-line medical therapy is often **Sirolimus** (mTOR inhibitor) or Corticosteroids. Surgery is rarely feasible due to the infiltrative nature and bleeding risk. * **Distinction:** It is *not* usually seen with common infantile (strawberry) hemangiomas.

Q: A 4-year-old boy develops severe bleeding into the knee joint. Laboratory studies show that serum levels of factor IX are reduced, but levels of factor VIII are normal. What is the appropriate diagnosis?

Hemophilia B. ### Explanation **Correct Option: B. Hemophilia B** The clinical presentation of severe bleeding into a joint (**hemarthrosis**) in a young boy is a classic hallmark of Hemophilia. Hemophilia B, also known as **Christmas Disease**, is an X-linked recessive disorder caused by a deficiency of **Coagulation Factor IX**. Since the laboratory findings specifically indicate reduced Factor IX levels with normal Factor VIII levels, Hemophilia B is the definitive diagnosis. **Why other options are incorrect:** * **Hemophilia A:** While it presents identically to Hemophilia B (hemarthrosis, X-linked inheritance), it is caused by a deficiency of **Factor VIII**. The normal Factor VIII levels in this patient rule it out. * **Henoch-Schönlein Purpura (HSP):** This is a small-vessel vasculitis characterized by a tetrad of palpable purpura, arthritis, abdominal pain, and renal involvement. It does not typically cause deep-tissue or joint bleeding (hemarthrosis) and is not associated with factor deficiencies. * **Idiopathic Thrombocytopenic Purpura (ITP):** This is a platelet disorder. It typically presents with superficial bleeding like **petechiae, ecchymosis, and mucosal bleeding** (epistaxis), rather than deep-seated joint bleeds. Coagulation factors are normal in ITP. **High-Yield Clinical Pearls for NEET-PG:** * **Inheritance:** Both Hemophilia A and B are **X-linked recessive** (affecting males; females are carriers). * **Lab Profile:** Characterized by **prolonged aPTT** (intrinsic pathway) with a **normal PT and Bleeding Time**. * **Mixing Study:** Prolonged aPTT will **correct** when mixed with normal plasma (differentiates deficiency from inhibitors). * **Treatment:** Factor replacement is the mainstay. For Hemophilia B, use Factor IX concentrate. Fresh Frozen Plasma (FFP) is used if specific factors are unavailable.

Q: A 6-month-old baby presents with severe pallor and hepatosplenomegaly. A similar history is present in a sibling. What is the investigation of choice?

Hb electrophoresis. ### Explanation The clinical presentation of a 6-month-old infant with **severe pallor**, **hepatosplenomegaly**, and a **positive sibling history** strongly suggests a diagnosis of **Beta-Thalassemia Major**. **1. Why Hb Electrophoresis is the Correct Answer:** In India, Thalassemia Major is the most common cause of transfusion-dependent anemia in infancy. Symptoms typically appear after 6 months of age as the physiological switch from fetal hemoglobin (HbF) to adult hemoglobin (HbA) fails due to defective beta-chain synthesis. **Hb Electrophoresis** (or HPLC) is the gold standard investigation of choice because it confirms the diagnosis by demonstrating: * **Absence or marked reduction of HbA.** * **Significantly elevated HbF** (often >90%). * Variable levels of HbA2. **2. Why Other Options are Incorrect:** * **Bone Marrow Biopsy:** While it shows erythroid hyperplasia, it is invasive and non-specific. It is not required for diagnosing hemoglobinopathies. * **Hb Estimation:** This confirms the presence and severity of anemia (pallor) but does not provide the etiology or specific diagnosis. * **Platelet Count:** This is usually normal in thalassemia unless there is significant hypersplenism (causing thrombocytopenia), but it is not a diagnostic tool for the primary condition. **3. Clinical Pearls for NEET-PG:** * **Age of onset:** Symptoms appear at 6 months because HbF (which uses gamma chains) is replaced by HbA (which requires beta chains). * **Skeletal changes:** Chronic erythroid hyperplasia leads to "Chipmunk facies" and a "Hair-on-end" appearance on skull X-ray. * **HPLC (High-Performance Liquid Chromatography):** Often preferred over electrophoresis in modern practice for its speed and quantification accuracy. * **Peripheral Smear:** Shows microcytic hypochromic anemia with target cells and nucleated RBCs.

Question 1

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 2

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 3

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 4

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 5

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 6

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

Question 7

A 3-year-old child presents with bruising and generalized petechiae. There is no hepatosplenomegaly or lymphadenopathy. The child had a history of viral illness 2 weeks prior. Investigations reveal normal hemoglobin, hematocrit, and white blood cell (WBC) count and differential. The platelet count is 19,000/µL. Which of the following is NOT associated with this clinical presentation?

Accepted Answer

Cytomegalovirus

Answer

Ebstein-Barr virus

Answer

HIV

Answer

Helicobacter pylori

Question 8

Which of the following is false regarding Kasabach syndrome?

Accepted Answer

Coagulopathy is absent.

Answer

May be a complication of a hemangioma.

Answer

Due to complication of hemangioma.

Answer

Thrombocytopenia is present.

Question 9

A 4-year-old boy develops severe bleeding into the knee joint. Laboratory studies show that serum levels of factor IX are reduced, but levels of factor VIII are normal. What is the appropriate diagnosis?

Accepted Answer

Hemophilia B

Answer

Hemophilia A

Answer

Henoch-Schonlein purpura

Answer

Idiopathic thrombocytopenic purpura

Question 10

A 6-month-old baby presents with severe pallor and hepatosplenomegaly. A similar history is present in a sibling. What is the investigation of choice?

Accepted Answer

Hb electrophoresis

Answer

Bone marrow biopsy

Answer

Hb estimation

Answer

Platelet count

Hematology — MCQs

Hematology — MCQs

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