Hematology Practice Questions

Q: A mother brings her 2-year-old boy with a history of pallor. Examination reveals pallor, petechiae, and splenomegaly. Which of the following is the most likely diagnosis?

Acute leukaemia. ### Explanation The clinical triad of **pallor, petechiae, and splenomegaly** in a young child is a classic presentation of **Acute Leukemia** (most commonly Acute Lymphoblastic Leukemia - ALL in this age group). #### Why Acute Leukemia is Correct: The underlying mechanism is **bone marrow infiltration** by malignant blast cells. This leads to: 1. **Anemia:** Causing pallor. 2. **Thrombocytopenia:** Leading to petechiae and mucosal bleeding. 3. **Extramedullary involvement:** Infiltration of the liver and spleen results in hepatosplenomegaly. The presence of both cytopenias (anemia + thrombocytopenia) and organomegaly strongly points toward a bone marrow malignancy rather than a simple nutritional deficiency or isolated platelet disorder. #### Why Other Options are Incorrect: * **Thalassaemia:** While it presents with severe pallor and massive splenomegaly (due to extramedullary hematopoiesis), it does **not** cause thrombocytopenia or petechiae. In fact, platelet counts are usually normal or elevated. * **Hodgkin’s Lymphoma:** Typically presents with painless lymphadenopathy (often cervical). While splenomegaly can occur, it rarely presents with acute bone marrow failure (petechiae) in the early stages. * **Idiopathic Thrombocytopenic Purpura (ITP):** While ITP causes petechiae, the **spleen is typically NOT palpable**. If splenomegaly is present, an alternative diagnosis like leukemia must be ruled out. Furthermore, ITP does not cause anemia (pallor) unless there is significant hemorrhage. #### NEET-PG High-Yield Pearls: * **ALL** is the most common childhood malignancy (Peak age: 2–5 years). * **Diagnostic Gold Standard:** Bone marrow aspiration showing >20% blasts. * **Prognostic Marker:** Presence of the Philadelphia chromosome t(9;22) indicates a poor prognosis in ALL. * **Clinical Clue:** Bone pain (refusal to walk) in a pale child with petechiae is a high-yield indicator for Leukemia.

Q: Aplastic anemia with skeletal abnormalities, short stature, and pancreatic exocrine failure suggests which diagnosis?

Shwachman-Diamond syndrome. **Explanation:** **Shwachman-Diamond Syndrome (SDS)** is the correct diagnosis because it is classically characterized by the triad of **pancreatic exocrine insufficiency** (presenting as malabsorption/steatorrhea), **bone marrow failure** (initially neutropenia, progressing to aplastic anemia), and **skeletal abnormalities** (metaphyseal dysostosis and short stature). It is the second most common cause of inherited pancreatic insufficiency after Cystic Fibrosis. **Analysis of Incorrect Options:** * **Fanconi Anemia:** While it presents with aplastic anemia, short stature, and skeletal defects (classically **absent/hypoplastic radii or thumbs**), it does **not** involve pancreatic exocrine failure. It is also associated with hyperpigmentation (café-au-lait spots). * **Diamond-Blackfan Anemia:** This is a **pure red cell aplasia** (not global aplasia) presenting in infancy. While it features skeletal anomalies (triphalangeal thumbs), it lacks pancreatic involvement and neutropenia. * **G6PD Deficiency:** This is an enzyme defect causing **episodic hemolytic anemia** triggered by oxidative stress (fava beans, infections). It does not cause bone marrow failure or skeletal malformations. **High-Yield Clinical Pearls for NEET-PG:** * **SDS Genetics:** Most cases are due to mutations in the **SBDS gene** (Autosomal Recessive). * **Differentiating SDS from Cystic Fibrosis:** SDS patients have a **normal sweat chloride test** despite pancreatic symptoms. * **Malignancy Risk:** Patients with SDS have a significantly increased risk of developing **Myelodysplastic Syndrome (MDS)** and **Acute Myeloid Leukemia (AML)**. * **Lab Hallmark:** Intermittent or persistent **neutropenia** is often the earliest hematologic sign.

Q: In Sickle cell disease, aplastic crisis is due to which type of infection?

Parvovirus B19 infection. **Explanation:** In Sickle Cell Disease (SCD), the lifespan of a red blood cell (RBC) is significantly reduced (10–20 days compared to the normal 120 days). To maintain hemoglobin levels, the bone marrow must work at maximum capacity. **Parvovirus B19** is the correct answer because it specifically targets and destroys **erythroid progenitor cells** in the bone marrow by binding to the P-antigen. In healthy individuals, a brief pause in RBC production is clinically silent. However, in SCD patients, this sudden cessation of erythropoiesis leads to a rapid drop in hemoglobin and a disappearance of reticulocytes from the peripheral blood, resulting in a life-threatening **Aplastic Crisis**. **Analysis of Incorrect Options:** * **A. Herpes infection:** Herpes simplex viruses typically cause mucocutaneous lesions or encephalitis; they do not specifically target erythroid precursors. * **B. Measles infection:** Measles causes respiratory symptoms and a characteristic maculopapular rash (Koplik spots) but is not associated with bone marrow suppression in SCD. * **D. Rubella infection:** While Rubella can cause congenital defects or a mild febrile illness with rash, it does not trigger aplastic crises. **High-Yield Clinical Pearls for NEET-PG:** * **Hallmark of Aplastic Crisis:** Severe anemia + **Reticulocytopenia** (Reticulocyte count <1%). This distinguishes it from a Hyperhemolytic crisis where reticulocytes are elevated. * **Diagnosis:** Detection of Parvovirus B19 IgM antibodies or PCR for viral DNA. * **Management:** Urgent blood transfusion is the mainstay of treatment. * **Other Crises in SCD:** Vaso-occlusive crisis (most common), Splenic Sequestration (sudden splenomegaly + drop in Hb), and Acute Chest Syndrome.

Q: A 10-year-old boy presents with mucosal bleeding of 1 week's duration. Which investigation is most useful in this patient?

Platelet count. **Explanation:** The clinical presentation of **mucosal bleeding** (such as epistaxis, gum bleeding, or petechiae) is a hallmark of **primary hemostasis** defects. Primary hemostasis involves the formation of a platelet plug and is dependent on adequate platelet numbers and function. Therefore, a **Platelet count** is the most useful initial investigation to rule out thrombocytopenia (e.g., ITP, which is common in children). **Why the other options are incorrect:** * **Prothrombin Time (PT):** Measures the extrinsic and common pathways of the coagulation cascade. Deficiencies here typically present with deep-seated bleeds (hematomas or hemarthrosis), not superficial mucosal bleeding. * **Partial Thromboplastin Time (PTT):** Measures the intrinsic and common pathways. Like PT, it assesses secondary hemostasis. Prolonged PTT is seen in conditions like Hemophilia, which rarely presents with isolated mucosal bleeding. * **Clotting Time (CT):** This is an obsolete, insensitive test with poor reproducibility. It only becomes prolonged in severe coagulation factor deficiencies and is not used in modern clinical practice. **NEET-PG Clinical Pearls:** * **Primary Hemostasis Defect:** Characterized by mucosal bleeding, petechiae, purpura, and immediate bleeding after injury. (Tests: Platelet count, Bleeding Time/PFA-100). * **Secondary Hemostasis Defect:** Characterized by deep muscle hematomas, hemarthrosis (joint bleeds), and delayed bleeding. (Tests: PT, aPTT). * **Von Willebrand Disease (vWD):** The most common inherited bleeding disorder; it is a unique "hybrid" that often presents with mucosal bleeding because vWF is required for platelet adhesion.

Q: A one-year-old baby, exclusively breastfed, presents with 1 cm hepatomegaly, severe pallor, and no splenomegaly. What is the most important investigation?

Serum iron estimation. **Explanation:** The clinical presentation of severe pallor, hepatomegaly (without splenomegaly), and a history of **exclusive breastfeeding** beyond six months in a one-year-old is classic for **Iron Deficiency Anemia (IDA)**. **1. Why Serum Iron Estimation is correct:** Breast milk is a poor source of iron. While the bioavailability of iron in breast milk is high, the absolute quantity is insufficient to meet the demands of a growing infant after 4–6 months of age. If complementary feeding (weaning) with iron-rich foods is not started, the infant exhausts their fetal iron stores, leading to IDA. In IDA, the liver may be slightly enlarged due to fatty changes associated with chronic hypoxia, but significant splenomegaly is typically absent (unlike in hemolytic anemias). Therefore, assessing iron status is the priority. **2. Why other options are incorrect:** * **Vitamin B12/Folic Acid:** While megaloblastic anemia causes pallor, it is less common in exclusively breastfed infants unless the mother is a strict vegan. Furthermore, megaloblastic anemia often presents with hypersegmented neutrophils and significant irritability/developmental regression. * **Fetal Hemoglobin (HbF):** This is used to diagnose Thalassemia. However, Thalassemia major typically presents with **significant splenomegaly** (due to extramedullary hematopoiesis) and frontal bossing, which are absent here. **Clinical Pearls for NEET-PG:** * **Most common cause of anemia** in toddlers worldwide: Iron Deficiency. * **Milk Anemia:** Excessive intake of cow’s milk (>600ml/day) is a major risk factor for IDA in older infants. * **Mentzer Index (MCV/RBC count):** 13 suggests Iron Deficiency Anemia. * **First laboratory sign of recovery** after iron supplementation: Increase in Reticulocyte count (usually within 3–7 days).

Q: In iron deficiency anemia, after hemoglobin levels have returned to normal and iron stores are replenished, for how long should iron tablets be recommended?

0-3 months. **Explanation:** The management of Iron Deficiency Anemia (IDA) involves not only normalizing hemoglobin (Hb) levels but also replenishing the body's iron stores (ferritin). **Why Option A is Correct:** According to standard pediatric guidelines (including Nelson and IAP), oral iron therapy should be continued for **2 to 3 months after the hemoglobin level has returned to normal**. This duration is sufficient to saturate the iron stores (measured by serum ferritin). Continuing therapy for 0-3 months post-normalization ensures that the child does not relapse into anemia once the immediate demand for erythropoiesis is met. **Why Other Options are Incorrect:** * **Options B, C, and D:** Extending treatment for 6 to 24 months is unnecessary for uncomplicated IDA. Prolonged iron supplementation beyond the replenishment of stores increases the risk of gastrointestinal side effects (constipation, abdominal pain), poor compliance, and potential iron overload. These durations are typically reserved for chronic malabsorptive states or ongoing blood loss, which are not the standard scenarios for this question. **High-Yield Clinical Pearls for NEET-PG:** * **Earliest response to Iron:** Subjective improvement (increased appetite/alertness) occurs within **12–24 hours**. * **Earliest Hematological response:** Reticulocytosis, which peaks at **5–7 days**. * **Hemoglobin rise:** Usually increases by **0.7–1 g/dL per week**. * **Dose:** The therapeutic dose of elemental iron in children is **3–6 mg/kg/day**. * **Best Absorption:** Iron is best absorbed on an empty stomach or with Vitamin C (citrus juices); absorption is inhibited by milk, tea, and phytates.

Question 1

What is false regarding iron absorption?

Accepted Answer

It primarily occurs in the duodenum.

Answer

Approximately 10% of dietary iron is absorbed.

Answer

Ascorbic acid enhances iron absorption.

Answer

Oral iron administration can increase the incidence of breath-holding spells.

Question 2

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 3

A mother brings her 2-year-old boy with a history of pallor. Examination reveals pallor, petechiae, and splenomegaly. Which of the following is the most likely diagnosis?

Accepted Answer

Acute leukaemia

Answer

Thalassaemia

Answer

Hodgkin's lymphoma

Answer

Idiopathic thrombocytopenic purpura

Question 4

Aplastic anemia with skeletal abnormalities, short stature, and pancreatic exocrine failure suggests which diagnosis?

Accepted Answer

Shwachman-Diamond syndrome

Answer

Fanconi anemia

Answer

Diamond-Blackfan anemia

Answer

G6PD deficiency

Question 5

Which of the following is characteristic of Fanconi Anemia?

Accepted Answer

Characteristic chromosomal breakage studies are seen with DEB and Mitomycin C.

Answer

It is an autosomal dominant condition.

Answer

It commonly occurs in old age.

Answer

The bone marrow is hypercellular.

Question 6

In Sickle cell disease, aplastic crisis is due to which type of infection?

Accepted Answer

Parvovirus B19 infection

Answer

Herpes infection

Answer

Measles infection

Answer

Rubella infection

Question 7

A 10-year-old boy presents with mucosal bleeding of 1 week's duration. Which investigation is most useful in this patient?

Accepted Answer

Platelet count

Answer

Prothrombin time

Answer

Clotting time

Answer

Partial thromboplastin time

Question 8

A one-year-old baby, exclusively breastfed, presents with 1 cm hepatomegaly, severe pallor, 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 9

What is the primary treatment for Kostmann's syndrome?

Accepted Answer

G-CSF

Answer

Anti-thymocyte globulin and cyclosporin

Answer

Anti-thymocyte globulin, cyclosporin, and GM-CSF

Answer

GM-CSF

Question 10

In iron deficiency anemia, after hemoglobin levels have returned to normal and iron stores are replenished, for how long should iron tablets be recommended?

Accepted Answer

0-3 months

Answer

3-6 months

Answer

6-12 months

Answer

12-24 months

Hematology — MCQs

Hematology — MCQs

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