Hematology Practice Questions

Q: What is the most common inherited bleeding disorder?

Von Willebrand disease. **Explanation:** **Von Willebrand Disease (vWD)** is the most common inherited bleeding disorder worldwide, affecting approximately 1% of the general population. It is caused by a quantitative or qualitative deficiency of **Von Willebrand Factor (vWF)**, a large multimeric glycoprotein essential for platelet adhesion to the subendothelium (via GpIb receptors) and for stabilizing Factor VIII in the circulation. It is typically inherited in an **Autosomal Dominant** pattern (Types 1 and 2). **Analysis of Options:** * **Bernard-Soulier Syndrome:** A rare autosomal recessive disorder caused by a deficiency of the **GpIb-IX-V receptor**. It is characterized by giant platelets and thrombocytopenia. * **Glanzmann Thrombasthenia:** A rare autosomal recessive disorder caused by a deficiency of the **GpIIb/IIIa receptor**, leading to defective platelet aggregation. * **Idiopathic Thrombocytopenic Purpura (ITP):** While common, this is an **acquired** autoimmune condition, not an inherited one. **High-Yield Clinical Pearls for NEET-PG:** * **Clinical Presentation:** Mucocutaneous bleeding (epistaxis, menorrhagia, gingival bleeding). * **Screening Tests:** Bleeding Time (BT) is prolonged; Platelet count is usually normal (except in Type 2B). * **Confirmatory Tests:** Ristocetin Cofactor Activity (decreased) and vWF Antigen levels. * **APTT:** May be prolonged because vWF stabilizes Factor VIII. * **Treatment of Choice:** **Desmopressin (DDAVP)** for Type 1 (releases stored vWF from Weibel-Palade bodies); Cryoprecipitate or vWF-containing concentrates for severe cases.

Q: Infantile polycythemia is seen in which of the following conditions?

Cerebellar hemangioma. **Explanation:** The correct answer is **Cerebellar hemangioma**. **1. Why Cerebellar Hemangioma is Correct:** Infantile polycythemia (erythrocytosis) in this context is a **paraneoplastic syndrome** caused by the ectopic production of **Erythropoietin (EPO)**. Cerebellar hemangiomas (specifically Hemangioblastomas) are highly vascular tumors often associated with **Von Hippel-Lindau (VHL) syndrome**. These tumor cells can autonomously secrete EPO, which stimulates the bone marrow to increase red blood cell production, leading to polycythemia. **2. Why the Other Options are Incorrect:** * **Retinoblastoma:** While this is the most common intraocular tumor of childhood, it is not associated with ectopic EPO production or polycythemia. It typically presents with leukocoria (white pupillary reflex). * **Hepatoblastoma:** Although some liver tumors (like Hepatocellular Carcinoma in adults) can cause polycythemia, Hepatoblastoma in infants is more commonly associated with precocious puberty (due to β-hCG secretion) or thrombocytosis, rather than erythrocytosis. **3. NEET-PG High-Yield Pearls:** * **Differential Diagnosis of Ectopic EPO Production:** Remember the mnemonic **"Potentially Really High Hematocrit"**: **P**heochromocytoma, **R**enal Cell Carcinoma (RCC), **H**epatocellular Carcinoma (HCC), and **H**emangioblastoma. * **VHL Syndrome Triad:** Cerebellar hemangioblastoma, Retinal angiomas, and Renal Cell Carcinoma. * **Infantile Polycythemia (Non-neoplastic):** More commonly caused by delayed cord clamping, maternal-fetal transfusion, or intrauterine growth restriction (IUGR) leading to fetal hypoxia. * **Clinical Presentation:** Infants with polycythemia may present with "ruddy" complexion (plethora), lethargy, or jaundice due to increased RBC turnover.

Q: What is the laboratory test used in blood to monitor low molecular weight heparins (LMWH) therapy?

Anti-Xa activity. **Explanation:** The correct answer is **Anti-Xa activity**. **Why it is correct:** Low Molecular Weight Heparins (LMWH), such as Enoxaparin, primarily exert their anticoagulant effect by binding to Antithrombin III, which then selectively inhibits **Factor Xa**. Unlike Unfractionated Heparin (UFH), LMWH has a minimal effect on Thrombin (Factor IIa). Therefore, standard tests like aPTT (which measures the intrinsic pathway and is sensitive to Thrombin inhibition) are not elevated by LMWH. The **Chromogenic Anti-Xa assay** is the specific functional test used to measure the plasma concentration of LMWH and its ability to inhibit Factor Xa. **Why other options are incorrect:** * **Factor Xa level:** This measures the amount of the factor present, not the inhibitory activity of the drug. We monitor the *neutralization* of the factor (Anti-Xa), not the level of the factor itself. * **Thrombin Time (TT):** This measures the conversion of Fibrinogen to Fibrin. It is highly sensitive to Unfractionated Heparin but remains normal with LMWH because LMWH does not significantly inhibit Thrombin. * **Antithrombin level:** While LMWH requires Antithrombin to work, measuring its level does not quantify the anticoagulant effect of the heparin dose administered. **NEET-PG High-Yield Pearls:** * **Monitoring:** LMWH does not require routine monitoring due to its predictable pharmacokinetics. Monitoring via Anti-Xa is indicated only in **pregnancy, obesity, renal failure, or neonates.** * **Timing:** Blood for Anti-Xa levels should be drawn at **peak effect** (4 hours after the subcutaneous dose). * **Antidote:** Protamine sulfate only partially neutralizes LMWH (approx. 60-70%), unlike its complete neutralization of UFH.

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

Serum iron estimation. **Explanation:** The clinical presentation of a one-year-old child with pallor and hepatomegaly without splenomegaly, especially with a history of **exclusive breastfeeding**, is a classic scenario for **Iron Deficiency Anemia (IDA)**. Breast milk has low iron content, and physiological iron stores are typically exhausted by 4–6 months of age. If complementary feeding (weaning) is not started timely, IDA develops. **Why Serum Iron Estimation is correct:** In the context of nutritional anemia in infants, IDA is the most common cause worldwide. While both IDA and Megaloblastic anemia can cause pallor, the absence of splenomegaly and the specific age group strongly point toward IDA. Serum iron estimation (along with Serum Ferritin and TIBC) is the gold standard for confirming iron deficiency. **Analysis of Incorrect Options:** * **Vitamin B12 & Folic Acid Estimation:** While exclusive breastfeeding can lead to B12 deficiency if the mother is a strict vegetarian, Megaloblastic anemia often presents with hyperpigmentation of knuckles and neurological symptoms. IDA is statistically more prevalent in this demographic. * **Fetal Hemoglobin (HbF) Estimation:** This is used to diagnose Thalassemia. However, Thalassemia major typically presents with **significant splenomegaly** (due to extramedullary hematopoiesis) and a "chipmunk facies," which are absent here. **Clinical Pearls for NEET-PG:** * **Most common cause of anemia in India:** Iron Deficiency Anemia. * **Milk & Iron:** Cow’s milk is a poor source of iron and can cause occult GI blood loss in infants. * **Hepatomegaly in IDA:** Mild hepatomegaly can occur in severe nutritional anemia due to fatty changes or congestive heart failure, but **splenomegaly** is usually absent. * **Mentzer Index:** (MCV/RBC count) 13 suggests IDA.

Q: Which of the following haemoglobin estimations will be diagnostically helpful in a case of beta-thalassemia trait?

Hb-A2. **Explanation:** The hallmark of **Beta-thalassemia trait (minor)** is a compensatory increase in **Hb-A2** levels. In this condition, there is a reduced synthesis of beta-globin chains. To compensate for the lack of Hb-A (α2β2), the body increases the production of delta-globin chains, which combine with alpha chains to form Hb-A2 (α2δ2). * **Diagnostic Criteria:** A Hb-A2 level **>3.5%** (typically 4–8%) on Hb electrophoresis or HPLC is the gold standard for diagnosing Beta-thalassemia trait. **Analysis of Incorrect Options:** * **Hb-F (α2γ2):** While Hb-F can be mildly elevated in the trait (1–5%), it is significantly elevated (up to 90%) in **Beta-thalassemia Major**. It is not as specific or consistent as Hb-A2 for the trait. * **Hb-A1c:** This is a measure of glycated hemoglobin used to monitor long-term glucose control in diabetes; it has no diagnostic value for thalassemia. * **Hb-H (β4):** This tetramer of beta-chains is the characteristic finding in **Alpha-thalassemia (3-gene deletion)**, not beta-thalassemia. **NEET-PG High-Yield Pearls:** 1. **Mentzer Index:** (MCV/RBC count) 13 suggests Iron Deficiency Anemia (IDA). 2. **Iron Deficiency Masking:** Co-existing iron deficiency can lower Hb-A2 levels, potentially masking a Beta-thalassemia trait diagnosis. Always correct iron deficiency before testing. 3. **Peripheral Smear:** Shows microcytic hypochromic anemia with **target cells** and basophilic stippling.

Question 1

A child with Thalassemia major, treated for cardiac arrhythmia due to iron overload, presents for regular transfusion. During the transfusion, the child becomes anxious and complains of back pain. What is the immediate next step in management?

Accepted Answer

Stop the transfusion and check for clerical errors

Answer

Perform an ECG

Answer

Continue transfusion while monitoring vital signs

Answer

Check for reddish discoloration of urine

Question 2

What is the current practice guideline for the management of hereditary spherocytosis, EXCEPT?

Accepted Answer

Penicillin prophylaxis post splenectomy

Answer

Avoid splenectomy in mild cases

Answer

Delay splenectomy up to 4 years

Answer

Antipneumococcal vaccination before splenectomy

Question 3

Which of the following conditions has the least impact on life expectancy since the point of diagnosis?

Accepted Answer

Chronic lymphoid leukemia

Answer

Chronic myeloid leukemia

Answer

Acute myeloid leukemia

Answer

Acute lymphoid leukemia

Question 4

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 5

A child died soon after birth. On examination, there was hepatosplenomegaly and edema all over the body. What is the most probable diagnosis?

Accepted Answer

alpha-thalassemia

Answer

beta-thalassemia

Answer

Hereditary spherocytosis

Answer

ABO incompatibility/sickle cell anemia

Question 6

What is the most common inherited bleeding disorder?

Accepted Answer

Von Willebrand disease

Answer

Bernard-Soulier syndrome

Answer

Glanzmann thrombasthenia

Answer

Idiopathic thrombocytopenic purpura (acute)

Question 7

Infantile polycythemia is seen in which of the following conditions?

Accepted Answer

Cerebellar hemangioma

Answer

Retinoblastoma

Answer

Hepatoblastoma

Answer

All of the above

Question 8

What is the laboratory test used in blood to monitor low molecular weight heparins (LMWH) therapy?

Accepted Answer

Anti-Xa activity

Answer

Factor Xa level

Answer

Thrombin time

Answer

Antithrombin level

Question 9

A one-year-old baby, exclusively breastfed, presents with pallor, hepatomegaly, 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 10

Which of the following haemoglobin estimations will be diagnostically helpful in a case of beta-thalassemia trait?

Accepted Answer

Hb-A2

Answer

Hb-F

Answer

Hb-A1c

Answer

Hb-H

Hematology — MCQs

Hematology — MCQs

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