Hematology Practice Questions

Q: Persistent priapism in childhood is most commonly due to which of the following conditions?

Sickle cell anaemia. **Explanation:** **Sickle Cell Anaemia (SCA)** is the most common cause of persistent priapism in the pediatric population. The underlying mechanism involves **stasis and sickling** of red blood cells within the sinusoids of the *corpora cavernosa*. This leads to a low-flow (ischemic) state, causing venous obstruction and painful, prolonged erections. In children with SCA, priapism can present as "stuttering" (recurrent short episodes) or as a major prolonged episode requiring emergency intervention to prevent permanent erectile dysfunction. **Analysis of Incorrect Options:** * **Hairy Cell Leukaemia (HCL):** While certain leukemias (like CML) can cause priapism due to hyperleukocytosis and hyperviscosity, HCL is extremely rare in childhood and is not a primary cause of pediatric priapism. * **Paraphimosis:** This is a urological emergency where the foreskin is trapped behind the glans penis, causing edema and pain. While it involves swelling, it is an external anatomical issue, not a true persistent erection (priapism). * **Urethral Stenosis:** This refers to the narrowing of the urethra, leading to obstructive voiding symptoms. It does not involve the vascular mechanisms required to trigger priapism. **NEET-PG High-Yield Pearls:** * **Type of Priapism:** Sickle cell disease typically causes **Ischemic (Low-flow) Priapism**, which is a medical emergency. * **Initial Management:** Hydration, analgesia, and oxygenation. If these fail, aspiration of blood from the corpora cavernosa or intracavernosal injection of alpha-adrenergic agonists (e.g., phenylephrine) is indicated. * **Other common causes in adults:** Medications (e.g., sildenafil, trazodone, antipsychotics) and spinal cord injuries.

Q: A healthy 3-year-old girl presents with acute onset of petechiae, purpura, and epistaxis. Her Hb is 12 g/dl, WBC is 5550/mm3, and platelet count is 2000/mm3. What is the most likely diagnosis?

Idiopathic thrombocytopenic purpura (ITP). **Explanation:** The clinical presentation of a previously healthy child with sudden onset of mucocutaneous bleeding (petechiae, purpura, epistaxis) and **isolated thrombocytopenia** (platelets <100,000/mm³) is the hallmark of **Immune Thrombocytopenic Purpura (ITP)**. In ITP, anti-platelet antibodies lead to peripheral destruction of platelets, typically following a viral prodrome. The diagnosis is one of exclusion, supported here by the normal hemoglobin (12 g/dl) and WBC count (5550/mm³), which rule out bone marrow failure or systemic illness. **Why other options are incorrect:** * **Acute Lymphoblastic Leukemia (ALL):** While it causes thrombocytopenia, it usually presents with "pancytopenia" or abnormalities in other cell lines (anemia, abnormal WBCs), along with systemic features like fever, bone pain, and hepatosplenomegaly. * **Aplastic Anemia:** This involves bone marrow failure leading to pancytopenia. A normal Hb and WBC count effectively rule this out. * **Disseminated Intravascular Coagulation (DIC):** DIC occurs in critically ill patients (sepsis, trauma) and involves a consumptive coagulopathy. This child is described as "healthy" and "acute onset," making DIC highly unlikely. **High-Yield Clinical Pearls for NEET-PG:** * **Peak Age:** 2–5 years; often follows a viral infection (e.g., URTI). * **Bone Marrow Findings:** Not routinely required unless atypical features are present, but if done, it shows **increased megakaryocytes**. * **Management:** Most pediatric cases are self-limiting. Treatment (IVIG or Corticosteroids) is indicated if there is significant mucosal bleeding or if the platelet count is <10,000–20,000/mm³. * **Rule of Thumb:** Isolated thrombocytopenia in an otherwise well-appearing child = ITP.

Q: What is the approximate percentage of HbF in a 6-month-old infant?

10%. **Explanation:** The transition from fetal hemoglobin (HbF, $\alpha_2\gamma_2$) to adult hemoglobin (HbA, $\alpha_2\beta_2$) is a critical physiological process that begins in utero and accelerates after birth. **Why 10% is correct:** At birth, HbF constitutes approximately **60–80%** of total hemoglobin. Following birth, the synthesis of gamma ($\gamma$) chains decreases while beta ($\beta$) chain synthesis increases. By the age of **6 months**, HbF levels typically decline to approximately **5–10%**. By 12 months of age, HbF reaches near-adult levels (usually <2%). **Analysis of Incorrect Options:** * **Option B (30%):** This level is typically seen around 3 months of age as the "hemoglobin switch" is mid-transition. * **Options C and D (50–60%):** These levels are characteristic of a newborn or an infant in the first few weeks of life. HbF at 60% at six months would be pathological, suggesting a hemoglobinopathy like Beta-Thalassemia Major or Hereditary Persistence of Fetal Hemoglobin (HPFH). **High-Yield Clinical Pearls for NEET-PG:** * **The Switch:** The physiological nadir (lowest point) of hemoglobin occurs at **2–3 months** of age (Physiological Anemia of Infancy) due to the transition from HbF to HbA and increased tissue oxygenation. * **HbF Structure:** Composed of two alpha ($\alpha$) and two gamma ($\gamma$) chains. It has a **higher affinity for oxygen** than HbA because it binds poorly to 2,3-BPG, facilitating oxygen transfer from mother to fetus. * **Clinical Relevance:** Symptoms of Beta-Thalassemia Major do not manifest until **6 months of age** because the high levels of HbF present earlier protect the infant from the effects of $\beta$-chain deficiency.

Q: A 5-year-old male child presents with severe transfusion-requiring anemia and jaundice. On examination, the liver and spleen are palpable 5 cm below the costal margin. Peripheral smear analysis shows findings consistent with a specific diagnosis. What is your diagnosis?

Thalassemia. ***Thalassemia*** • **Microcytic hypochromic RBCs**, **target cells**, **nucleated RBCs**, and **poikilocytosis** on peripheral smear are pathognomonic for thalassemia major in a young child with severe anemia. • **Massive hepatosplenomegaly** (5 cm below costal margin) occurs due to **extramedullary hematopoiesis** and **iron overload**, characteristic of thalassemia major requiring regular transfusions. *Nutritional anemia* • Would typically present as **iron deficiency** with **microcytic hypochromic** RBCs but without **target cells** or **nucleated RBCs** on peripheral smear. • Does not cause **massive hepatosplenomegaly** or require **frequent transfusions** in early childhood. *Aplastic anemia* • Characterized by **pancytopenia** with **hypocellular bone marrow**, not isolated severe anemia with abnormal RBC morphology. • Peripheral smear shows **normocytic normochromic** RBCs without the characteristic findings of **target cells** or **nucleated RBCs**. *Autoimmune hemolytic anemia* • Would show **spherocytes** and **polychromasia** on peripheral smear, not the **microcytic hypochromic** pattern with **target cells**. • Typically responds to **immunosuppressive therapy** rather than requiring chronic transfusions from early childhood.

Q: What is the first change of improvement noted after iron therapy is initiated?

Decreased irritability. **Explanation:** The clinical response to iron therapy in Iron Deficiency Anemia (IDA) follows a highly predictable chronological sequence. **1. Why "Decreased Irritability" is correct:** The earliest response to iron therapy is **subjective clinical improvement**, specifically a decrease in irritability and an increase in appetite. This occurs within **12 to 24 hours** of initiating therapy. This rapid change happens because iron is a crucial cofactor for several enzymes in the central nervous system (such as monoamine oxidase) and cellular metabolism (cytochromes). These enzymes are replenished long before new red blood cells are produced. **2. Analysis of Incorrect Options:** * **B. Reticulocytosis:** This is the first **objective hematological** sign of improvement. It typically begins within 48–72 hours and peaks between 5 to 10 days after starting therapy. * **C. Increase in serum iron levels:** While serum iron may fluctuate after a dose, it is not used as a reliable marker of early therapeutic response compared to clinical or reticulocyte changes. * **D. Replenishment of iron stores:** This is the **final** stage of therapy. Hemoglobin levels usually normalize within 1–2 months, but therapy must be continued for an additional 3–4 months to replenish ferritin (iron stores). **High-Yield Clinical Pearls for NEET-PG:** * **Sequence of Improvement:** Subjective/Enzymatic (12-24h) → Reticulocytosis (3-7 days) → Increase in Hemoglobin (begins in 1 week, normalizes by 2 months) → Storage/Ferritin (3-6 months). * **Oral Dose (Pediatrics):** 3–6 mg/kg/day of elemental iron. * **Best Absorption:** Iron is best absorbed on an empty stomach with Vitamin C (ascorbic acid), which maintains iron in the ferrous ($Fe^{2+}$) state.

Q: A 7-year-old boy presented with sudden onset petechiae and purpura. There was a history of upper respiratory tract infection 2 weeks prior. On examination, there was no hepatosplenomegaly. What is the most probable diagnosis?

Idiopathic Thrombocytopenic Purpura. ### Explanation The clinical presentation is classic for **Immune Thrombocytopenic Purpura (ITP)**, formerly known as Idiopathic Thrombocytopenic Purpura. **Why Option C is Correct:** ITP in children typically presents in the **2–8 year age group** with a sudden onset of isolated thrombocytopenia (petechiae, purpura, and bruising). A key diagnostic feature is a **preceding viral illness** (URTI or exanthem) occurring 1–3 weeks prior. Crucially, the absence of hepatosplenomegaly and lymphadenopathy points toward a diagnosis where only the platelet lineage is affected, rather than a systemic or bone marrow process. **Why Other Options are Incorrect:** * **A. Acute Lymphoblastic Leukemia (ALL):** While ALL presents with petechiae, it is usually accompanied by systemic signs like fever, bone pain, and physical findings like **hepatosplenomegaly** or lymphadenopathy. * **B. Acute Viral Infection:** While some viruses (like Dengue) cause thrombocytopenia, the 2-week lag period and the "sudden onset" of skin bleeds in an otherwise well-appearing child specifically favor the post-viral immune-mediated destruction seen in ITP. * **D. Aplastic Anemia:** This involves pancytopenia. Patients would typically present with symptoms of anemia (pallor, fatigue) and increased susceptibility to infections (neutropenia), which are absent here. **Clinical Pearls for NEET-PG:** * **Pathogenesis:** Type II hypersensitivity reaction where IgG autoantibodies are directed against platelet surface glycoproteins (**GpIIb/IIIa**). * **Bone Marrow:** If performed (to rule out leukemia), it shows **increased megakaryocytes**. * **Management:** Most childhood cases are self-limiting. If treatment is required (platelets <20,000/mm³ or significant bleeding), **IVIG** or **Corticosteroids** are first-line. * **Rule of Thumb:** Isolated thrombocytopenia + No Splenomegaly + Preceding URTI = ITP.

Q: Macrocytic anemia in children is produced by all of the following except?

Copper deficiency. **Explanation:** The correct answer is **Copper deficiency** because it typically presents as a **microcytic, hypochromic anemia** (mimicking iron deficiency) or a normocytic anemia, often accompanied by neutropenia. Copper is a vital cofactor for *hephaestin* and *ceruloplasmin*, enzymes required for iron transport and utilization. Its deficiency leads to impaired iron incorporation into hemoglobin, resulting in small red blood cells rather than large ones. **Analysis of other options:** * **Thiamine deficiency (Option A):** Specifically, **Thiamine-Responsive Megaloblastic Anemia (TRMA)** or Rogers Syndrome is a rare genetic disorder characterized by megaloblastic (macrocytic) anemia, non-type 1 diabetes, and sensorineural deafness. * **Orotic aciduria (Option B):** This is an autosomal recessive disorder of pyrimidine synthesis. The deficiency of UMP synthase leads to a failure in DNA synthesis, resulting in a **megaloblastic (macrocytic) anemia** that does not respond to Vitamin B12 or Folic acid. * **Liver disease (Option C):** Chronic liver disease causes macrocytosis through several mechanisms, including increased lipid deposition on the RBC membrane (target cells) and altered cholesterol metabolism, leading to an increased Mean Corpuscular Volume (MCV). **High-Yield Clinical Pearls for NEET-PG:** 1. **Copper Deficiency Hallmark:** Look for the combination of **anemia + neutropenia** in a patient on long-term TPN or following gastric bypass surgery. 2. **Bone Marrow Finding:** Copper deficiency often shows **ringed sideroblasts** and cytoplasmic vacuolization in myeloid precursors, which can be mistaken for Myelodysplastic Syndrome (MDS). 3. **Macrocytic Anemia Classification:** Always differentiate between **Megaloblastic** (DNA synthesis defect: B12/Folate deficiency, Orotic aciduria) and **Non-megaloblastic** (Liver disease, Hypothyroidism, Diamond-Blackfan anemia).

Q: A 2-year-old child presents with short stature and cafe-au-lait spots. Bone marrow aspiration yields a little material and mostly containing fat. What is your diagnosis?

Fanconi anemia. ### Explanation **Correct Answer: A. Fanconi Anemia** **Reasoning:** The clinical triad of **short stature**, **café-au-lait spots**, and **aplastic anemia** (suggested by the "dry tap" or fat-rich bone marrow) is classic for **Fanconi Anemia (FA)**. FA is the most common cause of inherited bone marrow failure. It is an autosomal recessive (mostly) DNA repair defect. * **Physical Findings:** Short stature, skin hyperpigmentation (café-au-lait spots), and skeletal anomalies (especially **absent/hypoplastic thumb** or radius). * **Hematology:** Progressive pancytopenia usually manifests between ages 2 and 10. The bone marrow biopsy typically shows **hypocellularity with fatty replacement**, as described in the question. **Why other options are incorrect:** * **B. Dyskeratosis Congenita:** While it also causes inherited bone marrow failure, it is characterized by a specific clinical triad: **abnormal skin pigmentation (reticular), nail dystrophy, and oral leukoplakia**. * **C. Tuberous Sclerosis:** Presents with café-au-lait spots and skin lesions (ash-leaf spots, adenoma sebaceum), but it is a neurocutaneous syndrome associated with seizures and tumors (hamartomas), not bone marrow failure. * **D. Osteogenesis Imperfecta:** Characterized by bone fragility, blue sclera, and hearing loss; it does not present with aplastic anemia or café-au-lait spots. **High-Yield Clinical Pearls for NEET-PG:** * **Gold Standard Test:** Chromosomal breakage analysis using **Diepoxybutane (DEB)** or Mitomycin C. * **Malignancy Risk:** Patients have a significantly increased risk of **AML** and squamous cell carcinomas (head, neck, and anogenital). * **Most common skeletal deformity:** Thumb and radial ray defects. * **Treatment of choice:** Hematopoietic stem cell transplant (HSCT).

Question 1

Persistent priapism in childhood is most commonly due to which of the following conditions?

Accepted Answer

Sickle cell anaemia

Answer

Hairy cell leukaemia

Answer

Paraphimosis

Answer

Urethral stenosis

Question 2

A healthy 3-year-old girl presents with acute onset of petechiae, purpura, and epistaxis. Her Hb is 12 g/dl, WBC is 5550/mm3, and platelet count is 2000/mm3. What is the most likely diagnosis?

Accepted Answer

Idiopathic thrombocytopenic purpura (ITP)

Answer

Acute lymphoblastic leukemia (ALL)

Answer

Aplastic anemia

Answer

Disseminated intravascular coagulation (DIC)

Question 3

What is the approximate percentage of HbF in a 6-month-old infant?

Accepted Answer

10%

Answer

30%

Answer

50%

Answer

60%

Question 4

A 5-year-old male child presents with severe transfusion-requiring anemia and jaundice. On examination, the liver and spleen are palpable 5 cm below the costal margin. Peripheral smear analysis shows findings consistent with a specific diagnosis. What is your diagnosis?

Accepted Answer

Thalassemia

Answer

Nutritional anemia

Answer

Aplastic anemia

Answer

Autoimmune hemolytic anemia

Question 5

What is the first change of improvement noted after iron therapy is initiated?

Accepted Answer

Decreased irritability

Answer

Reticulocytosis

Answer

Increase in serum iron levels

Answer

Replenishment of iron stores

Question 6

A 7-year-old boy presented with sudden onset petechiae and purpura. There was a history of upper respiratory tract infection 2 weeks prior. On examination, there was no hepatosplenomegaly. What is the most probable diagnosis?

Accepted Answer

Idiopathic Thrombocytopenic Purpura

Answer

Acute Lymphoblastic Leukemia

Answer

Acute viral infection

Answer

Aplastic Anemia

Question 7

A 20-month-old female child presents for a routine check-up. A complete blood count (CBC) reveals moderate neutropenia, but the child appears healthy, eats well, and is within expected developmental parameters for her age and sex. Other blood count parameters are within the normal range for her age. The family history is unremarkable. Repeat CBCs after one and two weeks show persistent neutropenia. Bone marrow examination is normal. What is the next best step in management?

Accepted Answer

Adopt a 'watch and wait' strategy

Answer

Administer corticosteroids

Answer

Administer multivitamins

Answer

Start antibiotics to prevent infection

Question 8

Macrocytic anemia in children is produced by all of the following except?

Accepted Answer

Copper deficiency

Answer

Thiamine deficiency

Answer

Orotic aciduria

Answer

Liver disease

Question 9

A 5-year-old boy presents with petechial spots that appeared overnight. Two weeks prior, he experienced abdominal pain. There is no hepatosplenomegaly. What is the most likely diagnosis?

Accepted Answer

Idiopathic thrombocytopenic purpura

Answer

Acute lymphoblastic leukemia

Answer

Aplastic anemia

Answer

Acute viral infection

Question 10

A 2-year-old child presents with short stature and cafe-au-lait spots. Bone marrow aspiration yields a little material and mostly containing fat. What is your diagnosis?

Accepted Answer

Fanconi anemia

Answer

Dyskeratosis congenita

Answer

Tuberous sclerosis

Answer

Osteogenesis imperfecta

Hematology — MCQs

Hematology — MCQs

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