Hematology Practice Questions

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).

Q: In a child with absent thumb, radial deviation of the wrist, and bowing of the forearm, which of the following investigations will not be useful?

Karyotyping. The clinical presentation of an absent thumb, radial deviation of the wrist, and forearm bowing describes **Radial Ray Defects**. In pediatrics, this triad is most commonly associated with **Fanconi Anemia (FA)**, **TAR Syndrome** (Thrombocytopenia Absent Radius), and **VACTERL** association. ### Why Karyotyping is the Correct Answer Standard **Karyotyping** (Option B) is not useful because Fanconi Anemia is not a numerical or structural chromosomal anomaly detectable by routine staining. Instead, the gold standard diagnostic test is the **Chromosomal Breakage Analysis** using clastogenic agents like Diepoxybutane (DEB) or Mitomycin C. While both involve chromosomes, "Karyotyping" refers to a different laboratory process that would appear normal in these patients. ### Why the Other Options are Useful * **Bone Marrow Examination (Option A):** Essential for Fanconi Anemia to evaluate for progressive pancytopenia, macrocytic anemia, or progression to MDS/AML. * **Platelet Count (Option B):** Crucial to differentiate between FA (pancytopenia) and TAR syndrome (isolated thrombocytopenia). Note: In TAR, the thumb is usually *present*, whereas in FA, it is *absent*. * **2D Echocardiogram (Option D):** Necessary to screen for congenital heart defects associated with VACTERL association or Holt-Oram syndrome (Heart-Hand syndrome). ### High-Yield Clinical Pearls * **Fanconi Anemia:** Most common inherited bone marrow failure; features include café-au-lait spots, short stature, and radial defects. * **TAR Syndrome:** Thrombocytopenia + Absent Radius + **Preserved Thumbs** (Key differentiator). * **Holt-Oram Syndrome:** ASD/VSD + Radial ray defects. * **VACTERL:** Vertebral, Anal atresia, Cardiac, TE fistula, Renal, and Limb defects.

Q: A 10-year-old boy complains of fatigue and abdominal pain after playing football. He also complains of painful swelling of digits in the past. Ultrasound abdomen shows a small spleen. Which of the following is the most likely diagnosis?

Sickle cell anemia. ### Explanation The clinical presentation is classic for **Sickle Cell Anemia (SCA)**. The key diagnostic clues are: 1. **Dactylitis (Hand-Foot Syndrome):** The "painful swelling of digits" in early childhood is often the first manifestation of SCA, caused by infarcts in the small bones of the hands and feet. 2. **Vaso-occlusive Crisis (VOC):** Fatigue and abdominal pain after physical exertion (football) suggest a crisis triggered by dehydration or hypoxia. Abdominal pain in SCA can result from mesenteric ischemia or splenic sequestration. 3. **Autosplenectomy:** The ultrasound finding of a **"small spleen"** is a pathognomonic late feature of SCA. Repeated splenic infarctions lead to fibrosis and shrinkage of the spleen (autosplenectomy), usually by age 8–10. --- ### Why the other options are incorrect: * **Iron Deficiency Anemia:** While it causes fatigue, it does not present with dactylitis, acute abdominal pain, or splenic atrophy. * **Pancreatitis:** Though it causes abdominal pain, it does not explain the history of painful digits or a shrunken spleen. * **Megaloblastic Anemia:** Presents with fatigue and glossitis, but not with vaso-occlusive phenomena or autosplenectomy. --- ### NEET-PG High-Yield Pearls: * **Splenomegaly in SCA:** The spleen is initially enlarged in early childhood (due to congestion) before undergoing **autosplenectomy**. If a teenager with SCA has a palpable spleen, suspect **HbSC disease** or **S-β thalassemia**. * **Howell-Jolly Bodies:** These nuclear remnants on a peripheral smear indicate functional asplenia/autosplenectomy. * **Most common organism for Osteomyelitis in SCA:** *Salmonella* (though *S. aureus* remains common overall). * **Most common cause of death in adults:** Acute Chest Syndrome. * **Management:** Hydroxyurea is used to increase **HbF** levels, which inhibits sickling.

Q: A child presents with sudden onset of red spots on the body, preceded by a viral infection 1-4 weeks prior. Investigations show Hb 12 gm%, WBC 11,000, and platelet count of 50,000. Which of the following is not useful for the management of this condition?

Platelet transfusion. **Explanation:** The clinical presentation of sudden onset petechiae/purpura following a viral prodrome, with isolated thrombocytopenia (Platelets 50,000/µL) and normal hemoglobin/WBC counts, is classic for **Immune Thrombocytopenic Purpura (ITP)**. **Why Platelet Transfusion is NOT useful (Correct Option):** In ITP, the underlying pathology is the production of autoantibodies (IgG) against platelet surface antigens. These antibody-coated platelets are rapidly destroyed by splenic macrophages. If exogenous platelets are transfused, they are immediately targeted and cleared by the same circulating antibodies. Therefore, platelet transfusion is ineffective and reserved only for life-threatening emergencies (e.g., intracranial hemorrhage). **Why other options are used in management:** * **Corticosteroids (Option D):** The first-line treatment. They decrease antibody production and reduce the clearance of platelets by the reticuloendothelial system. * **Intravenous Immunoglobulin (IVIG) (Option B):** Used for rapid elevation of platelet counts. It works by "clogging" the Fc receptors on splenic macrophages, preventing them from destroying platelets. * **Intravenous anti-D therapy (Option C):** An alternative for Rh-positive patients. It causes mild hemolysis; the spleen becomes busy clearing antibody-coated RBCs, thereby sparing the platelets. **Clinical Pearls for NEET-PG:** * **Bone Marrow Aspiration:** Not mandatory in typical cases but shows **increased megakaryocytes** (compensatory). * **Most common cause of isolated thrombocytopenia** in children. * **Prognosis:** 80% of childhood ITP cases are self-limiting and resolve spontaneously within 6 months. * **Management Threshold:** Treatment is usually initiated if the platelet count is **<20,000/µL** or if there is significant mucosal bleeding.

Question 1

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 2

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 3

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 4

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 5

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 6

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

Question 7

Which of the following conditions is associated with brown skin pigmentation, hypoplasia of the kidney and spleen, absent or hypoplastic thumb or radius, microcephaly, and mental and sexual retardation?

Accepted Answer

Aplastic Anemia

Answer

Pernicious Anemia

Answer

Sickle Cell Anemia

Answer

Megaloblastic Anemia

Question 8

In a child with absent thumb, radial deviation of the wrist, and bowing of the forearm, which of the following investigations will not be useful?

Accepted Answer

Karyotyping

Answer

Bone marrow examination

Answer

Platelet count

Answer

2D Echocardiogram

Question 9

A 10-year-old boy complains of fatigue and abdominal pain after playing football. He also complains of painful swelling of digits in the past. Ultrasound abdomen shows a small spleen. Which of the following is the most likely diagnosis?

Accepted Answer

Sickle cell anemia

Answer

Iron deficiency anemia

Answer

Pancreatitis

Answer

Megaloblastic anemia

Question 10

A child presents with sudden onset of red spots on the body, preceded by a viral infection 1-4 weeks prior. Investigations show Hb 12 gm%, WBC 11,000, and platelet count of 50,000. Which of the following is not useful for the management of this condition?

Accepted Answer

Platelet transfusion

Answer

Intravenous Immunoglobulin

Answer

Intravenous anti-D therapy

Answer

Corticosteroids

Hematology — MCQs

Hematology — MCQs

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