Hematology Practice Questions

Q: An 8-year-old boy presented with altered sensorium, nausea, vomiting, severe headache, and right-sided weakness. There was no history of trauma. On further examination, it was observed that the joints of the child were tender and stiff. The mother gave a history of easy bruising along with frequent episodes of epistaxis and hematemesis. Lab findings revealed normal hematocrit with a normal platelet count and PT, and an abnormally prolonged aPTT. Which of the following drugs is approved in the mild and moderate variants of the above disease?

Desmopressin. ### **Explanation** **Diagnosis: Hemophilia A** The clinical presentation of joint tenderness/stiffness (hemarthrosis), easy bruising, and mucosal bleeding (epistaxis, hematemesis) in a young boy points toward a bleeding disorder. The neurological symptoms (headache, vomiting, weakness) suggest an **intracranial hemorrhage**, a life-threatening complication of Hemophilia. * **Lab Profile:** Normal PT and Platelet count with a **prolonged aPTT** indicates a defect in the intrinsic pathway, specifically **Factor VIII (Hemophilia A)** or Factor IX (Hemophilia B). **Why Desmopressin (DDAVP) is Correct:** Desmopressin is a synthetic analog of vasopressin. It acts on **V2 receptors** to trigger the release of **Factor VIII and von Willebrand Factor (vWF)** from endothelial storage sites (Weibel-Palade bodies). It is the treatment of choice for **mild to moderate Hemophilia A** and Type 1 vWD because it transiently raises endogenous Factor VIII levels, avoiding the need for plasma-derived products. **Why Other Options are Incorrect:** * **Octreotide:** A somatostatin analog used for secretory diarrhea, acromegaly, and variceal bleeding; it has no role in coagulation factor release. * **Conivaptan:** A dual V1a/V2 receptor antagonist used for hyponatremia (SIADH); it would block the desired effect in this patient. * **Sacubitril:** A neprilysin inhibitor used in heart failure (usually combined with Valsartan); it has no effect on the hematological system. **Clinical Pearls for NEET-PG:** * **Hemophilia A:** X-linked recessive; Factor VIII deficiency. * **Mixing Study:** Prolonged aPTT in Hemophilia **corrects** when mixed with normal plasma (distinguishes it from factor inhibitors). * **DDAVP Side Effect:** Hyponatremia (due to water retention); fluid restriction is often advised during its use. * **Contraindication:** DDAVP is **ineffective in Severe Hemophilia A** (Factor VIII <1%) because there are no endogenous stores to release.

Q: A 4-year-old boy presents with chronic microcytic anemia and splenomegaly, but no other symptoms. His condition is due to decreased alpha-chain production, leading to the formation of four beta-chain tetramers (HbH). For this patient with a hemoglobin abnormality, what is the most likely diagnosis?

HbH disease. ### Explanation **Correct Answer: B. HbH disease** The clinical presentation and pathophysiology described are classic for **HbH disease**, a subtype of **Alpha-thalassemia**. 1. **Pathophysiology:** Alpha-thalassemia occurs due to the deletion of alpha-globin genes (normally four genes exist). HbH disease specifically results from the **deletion of 3 out of 4 alpha genes (--/-α)**. 2. **Mechanism:** When alpha-chain production is severely decreased, there is a relative excess of beta-chains. These excess beta-chains aggregate to form **tetramers ($\beta_4$)**, known as **Hemoglobin H (HbH)**. 3. **Clinical Features:** HbH has a very high affinity for oxygen, making it ineffective at delivering oxygen to tissues. It is also unstable and precipitates as **Heinz bodies**, leading to chronic hemolytic anemia and splenomegaly. --- ### Why the other options are incorrect: * **A. Beta-thalassemia major:** This is caused by a deficiency in beta-chain production, leading to an excess of alpha-chains (not beta-chains). It typically presents with severe anemia and "chipmunk facies" due to extramedullary hematopoiesis. * **C. Sickle cell disease:** This is a qualitative defect caused by a point mutation (glutamic acid to valine) in the beta-globin chain, forming HbS. It does not involve beta-tetramers. * **D. HbC disease:** This is caused by a mutation where glutamic acid is replaced by lysine. It is characterized by "HbC crystals" on peripheral smear, not HbH tetramers. --- ### NEET-PG High-Yield Pearls: * **Hb Bart’s:** A tetramer of four gamma chains ($\gamma_4$) seen in **Hydrops Fetalis** (deletion of all 4 alpha genes). * **Peripheral Smear:** HbH disease shows a "golf ball appearance" of RBCs when stained with **Supravital stains** (like Brilliant Cresyl Blue) due to precipitated HbH. * **Genetics:** Alpha-thalassemia is usually due to **gene deletions**, whereas Beta-thalassemia is usually due to **point mutations**.

Q: A couple, with a family history of beta thalassemia major in a distant relative, has come for counseling. The husband has HbA2 of 4.8% and the wife has HbA2 of 2.3%. What is the risk of them having a child with beta thalassemia major?

0%. ### Explanation The risk of a child having Beta Thalassemia Major depends on the carrier status of **both** parents. Beta thalassemia is an autosomal recessive disorder. **1. Why the correct answer is 0%:** * **The Husband:** An **HbA2 level >3.5%** (specifically 4%–8%) is the diagnostic hallmark of **Beta Thalassemia Trait (BTT)**. With an HbA2 of 4.8%, the husband is a carrier. * **The Wife:** A normal HbA2 level is typically **between 2% and 3%**. Her level of 2.3% is well within the normal range, indicating she is **not a carrier** of the beta-thalassemia gene. * **The Inheritance:** For a child to have Thalassemia Major, they must inherit one mutated gene from *each* parent (Homozygous state). Since the wife is hematologically normal, she will always pass on a normal gene. Therefore, the couple can only have children who are either normal or carriers (Thalassemia Minor), but the risk of Thalassemia Major is **0%**. **2. Why the incorrect options are wrong:** * **25%:** This would be the risk if **both** parents were carriers (BTT x BTT). * **50%:** This would be the risk of having a child with **Thalassemia Minor** (carrier) in this specific scenario, or the risk of Major if one parent had Thalassemia Intermedia/Major and the other was a carrier. * **5%:** This value does not correspond to standard Mendelian inheritance patterns for this condition. **3. Clinical Pearls for NEET-PG:** * **Screening Gold Standard:** Hb-HPLC (High-Performance Liquid Chromatography) is used to quantify HbA2. * **Mentzer Index:** (MCV/RBC count) 13 suggests Iron Deficiency Anemia. * **Silent Carriers:** If a patient has microcytic anemia but normal HbA2, consider **Alpha Thalassemia** or co-existing Iron Deficiency (which can falsely lower HbA2). * **Rule of Thumb:** If one parent is normal, Thalassemia Major is impossible in the offspring.

Q: What is the earliest indicator of response after starting iron therapy in a 6-year-old girl with iron deficiency anemia?

Increased reticulocyte count. ### Explanation The correct answer is **A. Increased reticulocyte count**. In iron deficiency anemia (IDA), the bone marrow is "starved" of iron, leading to ineffective erythropoiesis. Once oral iron therapy is initiated, the bone marrow responds rapidly. The **reticulocyte count** begins to rise within 3–5 days and typically peaks between **7–10 days**. This is the earliest measurable hematological sign that the therapy is effective and the marrow is producing new red blood cells. **Analysis of Incorrect Options:** * **B. Increased hemoglobin:** While hemoglobin levels begin to rise within 1–2 weeks (usually by 1–2 g/dL), it takes much longer than the reticulocyte response to show a significant change. Normalization of hemoglobin typically takes 4–8 weeks. * **C. Increased ferritin:** Ferritin reflects total body iron stores. It is the **last** parameter to normalize. Treatment must continue for 3–6 months after hemoglobin normalizes to replenish these stores. * **D. Increased serum iron:** Serum iron levels fluctuate significantly based on recent intake and do not reliably indicate a sustained therapeutic response or marrow recovery. **NEET-PG High-Yield Pearls:** 1. **Sequence of Response to Iron:** * **12–24 hours:** Subjective improvement (increased appetite, decreased irritability) due to replacement of iron-containing intracellular enzymes. * **36–72 hours:** Bone marrow shows erythroid hyperplasia. * **3–10 days:** Peak reticulocytosis (Earliest lab indicator). * **1–2 months:** Hemoglobin normalizes. * **3–6 months:** Ferritin levels normalize (Stores replenished). 2. **Dose:** The standard pediatric dose for IDA is **3–6 mg/kg/day** of elemental iron. 3. **Failure to respond:** If no reticulocytosis occurs within 2 weeks, consider non-compliance (most common), ongoing blood loss, or an incorrect diagnosis (e.g., Thalassemia trait).

Q: A 10-year-old child presents with short stature, pallor, multiple petechiae, and a hypoplastic thumb. Laboratory findings include HB of 7 g/dL, a normal reticulocyte count (1%), hematocrit of 25%, and an absolute neutrophil count of 200/mm³. What is the most likely diagnosis?

Fanconi's anemia. ### Explanation **1. Why Fanconi’s Anemia (FA) is the Correct Answer:** The clinical presentation is a classic triad of **Pancytopenia**, **Congenital Anomalies**, and **Short Stature**. * **Hematology:** The patient has anemia (Hb 7 g/dL), thrombocytopenia (petechiae), and neutropenia (ANC 200/mm³), indicating bone marrow failure. * **Physical Findings:** The **hypoplastic thumb** is a pathognomonic physical finding for Fanconi’s Anemia. * **Pathophysiology:** FA is an autosomal recessive DNA repair defect (chromosomal instability) leading to progressive bone marrow failure, typically manifesting between ages 5 and 10. **2. Why Other Options are Incorrect:** * **B. HIV Bone Marrow Infection:** While HIV can cause pancytopenia, it does not explain the congenital skeletal anomalies like a hypoplastic thumb or short stature. * **C. Hypersplenism:** This usually causes "sequestration" bicytopenia/pancytopenia, but it is associated with splenomegaly and would not present with congenital limb defects. * **D. Parvovirus B19/TEC:** These conditions typically cause **pure red cell aplasia** (isolated anemia with low reticulocytes). They do not cause neutropenia, thrombocytopenia, or skeletal malformations. **3. NEET-PG High-Yield Pearls:** * **Gold Standard Diagnosis:** Chromosomal breakage analysis using **Diepoxybutane (DEB)** or Mitomycin C. * **Most Common Skeletal Abnormality:** Absent or hypoplastic thumb/radius. * **Skin Findings:** Café-au-lait spots and hyperpigmentation. * **Malignancy Risk:** High risk of developing **AML** and squamous cell carcinomas (head and neck). * **Treatment:** Bone marrow transplant is the definitive cure for hematologic manifestations.

Q: All of the following features about Idiopathic Thrombocytopenia are true, EXCEPT:

Spontaneous remission is common in Chronic ITP. **Explanation:** Idiopathic Thrombocytopenic Purpura (ITP), now more commonly referred to as **Immune Thrombocytopenia**, is an acquired autoimmune disorder characterized by isolated thrombocytopenia (platelet count 12 months) rarely undergoes spontaneous remission. These patients often require long-term medical management (e.g., steroids, IVIg, or Rituximab) or surgical intervention (splenectomy). **Analysis of Other Options:** * **Option A:** Acute ITP in children is classically preceded by a **viral prodrome** (e.g., URI, varicella, or measles) or immunization 1–3 weeks before the onset of petechiae and bruising. * **Option B:** Chronic ITP shows a significant female predilection (Female:Male ratio of **3:1**), particularly in adolescents and adults, often associated with other autoimmune markers. * **Option D:** Acute ITP is the most common cause of sudden onset thrombocytopenia in an otherwise healthy child, typically peaking between **2–6 years of age**. **High-Yield Clinical Pearls for NEET-PG:** * **Diagnosis:** It is a diagnosis of exclusion. Bone marrow examination is not mandatory in classic pediatric cases but shows **increased megakaryocytes** if performed. * **Treatment Trigger:** In children, treatment is usually reserved for those with significant mucosal bleeding or a platelet count **<20,000/mm³**. * **First-line therapy:** Oral Prednisolone or IV Immunoglobulin (IVIg). * **Evans Syndrome:** ITP associated with Autoimmune Hemolytic Anemia (AIHA).

Q: A six-year-old boy presents with ecchymoses and petechiae all over the body two weeks after an upper respiratory tract infection. Abdominal examination is unremarkable with no hepatosplenomegaly. Which of the following statements about the affecting condition is FALSE?

Bleeding into the joints is a common manifestation.. ### Explanation The clinical presentation of a young child with sudden onset petechiae and ecchymoses following a viral infection, in the absence of hepatosplenomegaly or lymphadenopathy, is classic for **Immune Thrombocytopenic Purpura (ITP)**. **1. Why Option A is FALSE (The Correct Answer):** Bleeding into the joints (**Hemarthrosis**) is a hallmark of **coagulation factor deficiencies** (e.g., Hemophilia), not platelet disorders. ITP is a primary hemostatic defect characterized by mucocutaneous bleeding (petechiae, purpura, epistaxis). Joint bleeds are extremely rare in ITP. **2. Analysis of Other Options:** * **Option B (True):** In ITP, platelets are destroyed peripherally by anti-platelet antibodies. The bone marrow responds to this low count by increasing production, leading to **increased or normal megakaryocytes**. * **Option C (True):** By definition, ITP involves isolated **thrombocytopenia** (platelet count <100,000/µL) with normal hemoglobin and WBC counts. * **Option D (True):** Childhood ITP is usually acute and self-limiting. Approximately **70–80% of cases resolve spontaneously** within 6 months, often within the first few weeks, requiring only observation if bleeding is minimal. **Clinical Pearls for NEET-PG:** * **Triggers:** Often follows URI, Varicella, or vaccinations (e.g., MMR). * **Diagnosis:** It is a diagnosis of exclusion. Bone marrow aspiration is *not* mandatory unless atypical features (fever, bone pain, hepatosplenomegaly, or abnormal WBC/Hb) are present. * **Management:** If treatment is required (usually for mucosal bleeding or count 12 months.

Q: Which of the following statements regarding G6PD deficiency is true?

It is associated with bite cells.. **Explanation:** **Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency** is the most common red cell enzyme defect worldwide. It results in an inability to maintain adequate levels of reduced glutathione, leaving hemoglobin vulnerable to oxidative stress. **1. Why Option B is correct:** When RBCs are exposed to oxidative stress (e.g., fava beans, infections, or drugs like Primaquine), hemoglobin denatures and precipitates into **Heinz bodies**. As these cells pass through the splenic sinusoids, splenic macrophages "pluck out" these inclusions. This process removes a portion of the red cell membrane, resulting in characteristic **"Bite cells" (Degmacytes)**. If the cell remains in circulation, it may appear as a **Blister cell**. **2. Why other options are incorrect:** * **Option A:** G6PD deficiency is an **X-linked recessive** condition, primarily affecting males. * **Option C:** It provides a survival advantage against **Malaria** (*Plasmodium falciparum*), not Kala-azar. The oxidative stress inhibits the optimal growth of the parasite within the RBC. * **Option D:** Enzyme levels are **inversely proportional** to the age of RBCs. Reticulocytes and young RBCs have the highest enzyme activity, while older cells are most deficient. This is why G6PD levels may appear falsely normal during an acute hemolytic episode (as older cells have been destroyed). **High-Yield Clinical Pearls for NEET-PG:** * **Diagnosis:** Best initial test is a peripheral smear (Bite cells); Gold standard is the **Quantitative spectrophotometric assay** (performed 6–8 weeks after a hemolytic crisis). * **Common Triggers:** Sulfa drugs, Nitrofurantoin, Primaquine, Naphthalene balls, and Fava beans. * **Inheritance:** X-linked recessive (Lyon’s hypothesis explains rare symptomatic females).

Question 1

An 8-year-old boy presented with altered sensorium, nausea, vomiting, severe headache, and right-sided weakness. There was no history of trauma. On further examination, it was observed that the joints of the child were tender and stiff. The mother gave a history of easy bruising along with frequent episodes of epistaxis and hematemesis. Lab findings revealed normal hematocrit with a normal platelet count and PT, and an abnormally prolonged aPTT. Which of the following drugs is approved in the mild and moderate variants of the above disease?

Accepted Answer

Desmopressin

Answer

Octreotide

Answer

Conivaptan

Answer

Sacubitril

Question 2

A 4-year-old boy presents with chronic microcytic anemia and splenomegaly, but no other symptoms. His condition is due to decreased alpha-chain production, leading to the formation of four beta-chain tetramers (HbH). For this patient with a hemoglobin abnormality, what is the most likely diagnosis?

Accepted Answer

HbH disease

Answer

Beta-thalassemia major

Answer

Sickle cell disease

Answer

HbC disease

Question 3

A couple, with a family history of beta thalassemia major in a distant relative, has come for counseling. The husband has HbA2 of 4.8% and the wife has HbA2 of 2.3%. What is the risk of them having a child with beta thalassemia major?

Accepted Answer

0%

Answer

50%

Answer

25%

Answer

5%

Question 4

What is the earliest indicator of response after starting iron therapy in a 6-year-old girl with iron deficiency anemia?

Accepted Answer

Increased reticulocyte count

Answer

Increased hemoglobin

Answer

Increased ferritin

Answer

Increased serum iron

Question 5

A 10-year-old child presents with short stature, pallor, multiple petechiae, and a hypoplastic thumb. Laboratory findings include HB of 7 g/dL, a normal reticulocyte count (1%), hematocrit of 25%, and an absolute neutrophil count of 200/mm³. What is the most likely diagnosis?

Accepted Answer

Fanconi's anemia

Answer

HIV bone marrow infection

Answer

Hypersplenism-induced bicytopenia

Answer

Parvovirus B19 infection with transient erythroblastopenia of childhood

Question 6

All of the following features about Idiopathic Thrombocytopenia are true, EXCEPT:

Accepted Answer

Spontaneous remission is common in Chronic ITP

Answer

Acute ITP is often preceded by viral infections

Answer

Chronic ITP is common in females

Answer

Acute ITP is more common in children

Question 7

A six-year-old boy presents with ecchymoses and petechiae all over the body two weeks after an upper respiratory tract infection. Abdominal examination is unremarkable with no hepatosplenomegaly. Which of the following statements about the affecting condition is FALSE?

Accepted Answer

Bleeding into the joints is a common manifestation.

Answer

Bone marrow will show increased megakaryocytes.

Answer

Platelet count is decreased.

Answer

The condition resolves spontaneously in 80% of patients in 2 to 6 weeks.

Question 8

Which of the following statements regarding G6PD deficiency is true?

Accepted Answer

It is associated with bite cells.

Answer

It is an autosomal dominant condition.

Answer

It protects against kala azar.

Answer

Enzyme levels are directly proportional to the age of RBCs.

Question 9

What is the earliest biochemical response to iron therapy?

Accepted Answer

Reticulocyte count

Answer

Increase in hemoglobin percentage

Answer

Increased packed cell volume

Answer

Increased neutrophils

Question 10

Which of the following is not a cause of constitutional pancytopenia?

Accepted Answer

Diamond-Blackfan syndrome

Answer

Fanconi's anemia

Answer

Dyskeratosis congenita

Answer

Shwachman Diamond syndrome

Hematology — MCQs

Hematology — MCQs

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