Hematology Practice Questions

Q: "Chipmunk face" is characteristically seen in?

Beta thalassemia major. **Explanation:** **Beta Thalassemia Major (Correct Answer):** The "Chipmunk face" (or Thalassemic facies) is a classic manifestation of **ineffective erythropoiesis** and chronic hemolytic anemia. In Beta Thalassemia Major, the body attempts to compensate for severe anemia by expanding the bone marrow (erythroid hyperplasia). This **extramedullary hematopoiesis** causes the marrow cavities of the facial and cranial bones to expand, leading to: * Prominent cheekbones (malar prominence). * Frontal bossing. * Depressed nasal bridge. * Protrusion of the upper jaw (maxillary hypertrophy) with malocclusion of teeth. On X-ray, this marrow expansion in the skull gives the characteristic **"Hair-on-end" appearance**. **Why other options are incorrect:** * **Fetal Alcohol Syndrome:** Characterized by a smooth philtrum, thin upper lip, and short palpebral fissures, but not bony overgrowth. * **Cushing’s Syndrome:** Presents with a **"Moon face"** due to redistribution of adipose tissue (fat), not bony changes. * **Acromegaly:** Features frontal bossing and a prominent jaw (**prognathism**) due to excess Growth Hormone in adults, but it is not described as "chipmunk-like." **High-Yield Clinical Pearls for NEET-PG:** * **Management:** Regular blood transfusions are required, which can lead to **secondary hemosiderosis** (iron overload). * **Iron Chelation:** Usually started when ferritin levels exceed 1000 ng/ml or after 10–20 transfusions. * **Hb Electrophoresis:** Shows absence or marked reduction of HbA, with significantly elevated **HbF**.

Q: Increased fetal hemoglobin is seen in which of the following conditions?

Juvenile chronic myeloid leukemia (CML). **Explanation:** The correct answer is **Juvenile Chronic Myeloid Leukemia (JCML)**, now more commonly classified under Juvenile Myelomonocytic Leukemia (JMML). **1. Why JCML is correct:** JCML is a unique pediatric clonal myeloproliferative disorder. A hallmark feature of this condition is **"fetal-like erythropoiesis."** In JCML, the red blood cell precursors revert to a fetal phenotype, leading to a significant elevation of **Fetal Hemoglobin (HbF)**, often reaching 15–50% of total hemoglobin. This is a crucial diagnostic marker that helps differentiate JCML from adult-type CML occurring in children. **2. Why other options are incorrect:** * **Congenital red cell aplasia (Diamond-Blackfan Anemia):** While HbF can be elevated in this condition due to stress erythropoiesis, it is not the classic diagnostic association compared to the dramatic rise seen in JCML. * **Hereditary spherocytosis:** This is a red cell membrane defect. Hemoglobin electrophoresis is typically normal; there is no inherent mechanism for increased HbF production. * **Acute myeloid leukemia (AML):** While some cases of erythroleukemia (M6) might show minor elevations, increased HbF is not a characteristic or diagnostic feature of AML. **Clinical Pearls for NEET-PG:** * **JCML Triad:** Hepatosplenomegaly, lymphadenopathy, and skin rash (often xanthomas or café-au-lait spots). * **Diagnostic Clue:** Absence of the Philadelphia chromosome ($t[9;22]$) distinguishes JCML from adult CML. * **Other conditions with high HbF:** Beta-thalassemia major, Sickle cell anemia, and Hereditary Persistence of Fetal Hemoglobin (HPFH). * **JMML Association:** Strongly associated with **Neurofibromatosis type 1 (NF1)** and Noonan syndrome.

Q: A 5-year-old girl presents with a history of progressively increasing pallor for the past year and hepatosplenomegaly. Which of the following is the most relevant test for achieving a diagnosis?

Hb electrophoresis. **Explanation:** The clinical presentation of a 5-year-old child with **progressive pallor** (chronic anemia) and **hepatosplenomegaly** is a classic triad for **Thalassemia Major**. In the Indian context, this is the most common cause of transfusion-dependent hereditary anemia presenting in early childhood. **1. Why Hb Electrophoresis is the Correct Answer:** Hb electrophoresis (or HPLC) is the **gold standard** for diagnosing hemoglobinopathies. In Thalassemia Major, it reveals a characteristic pattern: a significant increase in **HbF (>90%)**, variable HbA2, and a near-total absence of HbA. This confirms the defect in globin chain synthesis, which is the underlying pathology. **2. Why Other Options are Incorrect:** * **Peripheral Smear:** While it shows microcytic hypochromic anemia with target cells and nucleated RBCs, these findings are non-specific and can overlap with Iron Deficiency Anemia (IDA). It suggests the diagnosis but does not confirm it. * **Osmotic Fragility Test:** This is the screening test for **Hereditary Spherocytosis**. In Thalassemia, osmotic fragility is actually *decreased* (cells are more resistant to lysis), making it an inappropriate diagnostic tool here. * **Bone Marrow Examination:** While it would show erythroid hyperplasia, it is an invasive procedure and is **not required** for the diagnosis of Thalassemia. **Clinical Pearls for NEET-PG:** * **HPLC (High-Performance Liquid Chromatography)** is now preferred over electrophoresis in modern practice for its precision. * **X-ray finding:** Look for "Hair-on-end" appearance (due to extramedullary hematopoiesis) and "Chipmunk facies." * **Mentzer Index:** (MCV/RBC count) 13 suggests Iron Deficiency Anemia.

Q: What is true about iron deficiency anemia in children?

Serum ferritin depletes first.. In Iron Deficiency Anemia (IDA), the depletion of iron occurs in a predictable, sequential manner. Understanding these stages is high-yield for NEET-PG. ### **Why Option C is Correct** The progression of iron deficiency follows three distinct stages: 1. **Iron Depletion (Stage 1):** The body’s storage iron is exhausted first to maintain serum levels. **Serum ferritin** is the most sensitive marker for this stage and is the **earliest laboratory index to decline.** 2. **Iron Deficient Erythropoiesis (Stage 2):** Serum iron decreases, and Total Iron Binding Capacity (TIBC) increases. 3. **Iron Deficiency Anemia (Stage 3):** Hemoglobin falls, and microcytic hypochromic changes appear on the peripheral smear. ### **Why Other Options are Incorrect** * **Option A:** Iron is primarily absorbed in the **duodenum** and upper jejunum, not the terminal ileum (which is the site for Vitamin B12 absorption). * **Option B:** Both cow’s milk and breast milk have low iron content (approx. 0.5–1 mg/L). However, the **bioavailability** of iron in breast milk is much higher (50%) compared to cow’s milk (10%). Cow's milk is a major risk factor for IDA due to its low bioavailability and potential for microscopic intestinal blood loss. * **Option D:** RDW (Red Cell Distribution Width) is **increased** in IDA. It is one of the earliest signs of IDA and helps differentiate it from Thalassemia trait (where RDW is typically normal). ### **High-Yield Clinical Pearls for NEET-PG** * **Mentzer Index:** (MCV/RBC count) >13 suggests IDA; <13 suggests Thalassemia. * **Best screening test:** Hemoglobin. * **Most sensitive/earliest indicator:** Serum Ferritin. * **Gold Standard investigation:** Bone marrow iron stores (Prussian blue staining), though rarely done clinically. * **First response to oral iron:** Reticulocytosis (peaks at 7–10 days).

Q: A 5-year-old male child presents with continuous bleeding from the mouth following a fall. He has no history of bruising or hematoma and is currently taking amoxicillin for a middle ear infection. On examination, he is stable with a small laceration on the lower lip showing blood oozing. Laboratory investigations show Hb 12.8 g/dL, hematocrit 35.4%, WBC count 8400/mm³, platelets 300 x 10⁹/L, Prothrombin time 11.5 seconds, and aPTT 37.2 seconds. What is the most likely diagnosis?

Von Willebrand disease. **Explanation:** The clinical presentation of mucosal bleeding (oozing from a lip laceration) in a child with normal platelet counts and normal coagulation profiles (PT and aPTT) strongly points toward **Von Willebrand Disease (vWD)**, the most common inherited bleeding disorder. **1. Why Von Willebrand Disease is correct:** vWD typically presents with **mucocutaneous bleeding** (epistaxis, gingival bleeding, or prolonged oozing from minor cuts). In Type 1 vWD (the most common form), the **PT is normal**, and the **aPTT is often normal or only mildly prolonged** (depending on Factor VIII levels). Since the platelet count is normal but their *function* (adhesion) is impaired due to deficient vWF, it fits the clinical picture of mucosal bleeding despite normal basic labs. **2. Why other options are incorrect:** * **Hemophilia A:** Characterized by deep-seated bleeding (hemarthrosis, muscle hematomas) rather than mucosal oozing. It would typically show a **significantly prolonged aPTT**. * **Glanzmann Thrombasthenia:** A defect in GP IIb/IIIa. While it causes mucosal bleeding, it is a severe platelet aggregation defect often presenting with more dramatic bruising/purpura from infancy. * **Bernard-Soulier Syndrome:** A defect in GP Ib-IX-V. It is characterized by **thrombocytopenia** and **giant platelets** on peripheral smear, which contradicts this patient's normal platelet count (300 x 10⁹/L). **NEET-PG High-Yield Pearls:** * **Screening Test for vWD:** Bleeding Time (BT) is prolonged (though PFA-100 is now preferred); PT/aPTT are often normal. * **Confirmatory Test:** Ristocetin Cofactor Activity (decreased). * **Treatment of Choice:** Desmopressin (DDAVP) for Type 1; Factor VIII concentrates containing vWF for severe cases. * **Inheritance:** Most vWD is Autosomal Dominant (unlike Hemophilia, which is X-linked Recessive).

Question 1

What type of transfusion is ideally recommended for children with thalassemia?

Accepted Answer

Saline washed packed RBC

Answer

Packed RBC

Answer

Platelet rich plasma

Answer

Whole blood

Question 2

"Chipmunk face" is characteristically seen in?

Accepted Answer

Beta thalassemia major

Answer

Fetal alcohol syndrome

Answer

Cushing's syndrome

Answer

Acromegaly

Question 3

Increased fetal hemoglobin is seen in which of the following conditions?

Accepted Answer

Juvenile chronic myeloid leukemia (CML)

Answer

Congenital red cell aplasia

Answer

Hereditary spherocytosis

Answer

Acute myeloid leukemia (AML)

Question 4

Which of the following is true about acute idiopathic thrombocytopenic purpura (ITP)?

Accepted Answer

Viral infections predispose to ITP.

Answer

It is more common in adults.

Answer

Detection of specific anti-platelet antibodies is mandatory for diagnosis.

Answer

Approximately 80% of cases transform into chronic ITP.

Question 5

A 13-year-old patient with sickle-cell anemia presents with respiratory distress and an infiltrate on chest radiograph. Laboratory findings include: hemoglobin 5 g/dL; hematocrit 16%; white blood cell count 30,000/mL; and arterial blood gases (room air) pH 7.1, PO2 35 mm Hg, and PaCO2 28 mm Hg. These values indicate which of the following?

Accepted Answer

Acidemia, metabolic acidosis, respiratory alkalosis, and hypoxia

Answer

Alkalemia, respiratory acidosis, metabolic alkalosis, and hypoxia

Answer

Acidosis with compensatory hypoventilation

Answer

Long-term metabolic compensation for respiratory alkalosis

Question 6

A 5-year-old girl presents with a history of progressively increasing pallor for the past year and hepatosplenomegaly. Which of the following is the most relevant test for achieving a diagnosis?

Accepted Answer

Hb electrophoresis

Answer

Peripheral smear examination

Answer

Osmotic fragility test

Answer

Bone marrow examination

Question 7

What is true about iron deficiency anemia in children?

Accepted Answer

Serum ferritin depletes first.

Answer

Iron absorption occurs from the terminal ileum.

Answer

Cow milk contains less iron than breast milk.

Answer

Red cell distribution width (RDW) is decreased.

Question 8

Which of the following statements about Fanconi's anaemia is true except?

Accepted Answer

Associated skeletal abnormalities involving thumb and radius

Answer

Progressive pancytopenia

Answer

Simultanagnosia

Answer

Visual object agnosia

Question 9

Constitutional pancytopenia can be seen in which of the following conditions?

Accepted Answer

Diamond-Blackfan syndrome

Answer

Fanconi's anemia

Answer

Dyskeratosis congenita

Answer

Shwachman-Diamond syndrome

Question 10

A 5-year-old male child presents with continuous bleeding from the mouth following a fall. He has no history of bruising or hematoma and is currently taking amoxicillin for a middle ear infection. On examination, he is stable with a small laceration on the lower lip showing blood oozing. Laboratory investigations show Hb 12.8 g/dL, hematocrit 35.4%, WBC count 8400/mm³, platelets 300 x 10⁹/L, Prothrombin time 11.5 seconds, and aPTT 37.2 seconds. What is the most likely diagnosis?

Accepted Answer

Von Willebrand disease

Answer

Hemophilia A

Answer

Glanzmann thrombasthenia

Answer

Bernard-Soulier syndrome

Hematology — MCQs

Hematology — MCQs

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