Hematology Practice Questions

Q: What is the best treatment for Sickle cell anemia?

Hydroxyurea. ### Explanation **Correct Option: A. Hydroxyurea** Hydroxyurea is the cornerstone of disease-modifying therapy in Sickle Cell Anemia (SCA). Its primary mechanism of action is the **induction of Fetal Hemoglobin (HbF)** production. HbF inhibits the polymerization of deoxygenated Hemoglobin S (HbS), thereby preventing the sickling of red blood cells. Clinically, this leads to a significant reduction in the frequency of painful Vaso-occlusive Crises (VOC), Acute Chest Syndrome, and the need for blood transfusions. **Why Incorrect Options are Wrong:** * **B. Sulphonamide:** These are antibiotics. While infection prophylaxis (usually with Penicillin) is vital in SCA due to autosplenectomy, sulphonamides are not a primary treatment and can actually trigger hemolysis in patients with co-existing G6PD deficiency. * **C. Iron Injection:** This is **contraindicated** in most SCA patients. Chronic hemolysis and frequent transfusions lead to secondary iron overload (hemosiderosis). Adding iron would worsen organ damage. * **D. Blood Transfusion:** While used for acute complications (e.g., stroke, severe anemia, or splenic sequestration), it is a supportive measure rather than a definitive long-term treatment for the underlying disease process. **High-Yield Clinical Pearls for NEET-PG:** * **Mechanism of Hydroxyurea:** Inhibits the enzyme **Ribonucleotide Reductase**, which increases HbF levels. * **Monitoring:** The most common side effect is **myelosuppression** (neutropenia/thrombocytopenia); hence, regular CBC monitoring is mandatory. * **Curative Treatment:** While Hydroxyurea is the "best" medical management, the only **curative** treatment currently available is **Allogeneic Hematopoietic Stem Cell Transplant (HSCT)**. * **Prophylaxis:** Daily oral Penicillin is recommended from birth until age 5 to prevent *S. pneumoniae* sepsis.

Q: The NESTROFT test is used in the screening of which condition?

Thalassemia. **Explanation:** **NESTROFT** (Naked Eye Single Tube Red Cell Osmotic Fragility Test) is a highly effective, low-cost screening tool used primarily for **Thalassemia Minor (Trait)**. **Why Thalassemia is correct:** The test is based on the principle of **osmotic fragility**. In Thalassemia, red blood cells (RBCs) are microcytic and hypochromic with a high surface-area-to-volume ratio. These cells are more resistant to hemolysis in hypotonic solutions compared to normal RBCs. In the NESTROFT procedure, blood is added to a 0.36% buffered saline solution. If the solution remains **turbid** (meaning the line behind the tube is not visible), it indicates that the RBCs have not lysed, signifying a positive screening result for Thalassemia trait. **Why other options are incorrect:** * **Autoimmune Hemolytic Anemia (AIHA):** This is diagnosed using the Direct Antiglobulin Test (Coombs Test), which detects antibodies on the RBC surface. * **Spherocytosis:** In Hereditary Spherocytosis, RBCs have **increased** osmotic fragility (they lyse easily) due to their spherical shape and low surface-area-to-volume ratio. While osmotic fragility tests are used, NESTROFT is specifically designed to detect the *decreased* fragility seen in Thalassemia. * **G6PD Deficiency:** This is an enzyme deficiency diagnosed via the Beutler fluorescent spot test or quantitative enzyme assays, not by osmotic fragility. **High-Yield Clinical Pearls for NEET-PG:** * **Gold Standard for Diagnosis:** While NESTROFT is a screening test, **Hb Electrophoresis** or HPLC (showing HbA2 > 3.5%) is the gold standard for diagnosing Thalassemia Trait. * **Mentzer Index:** Another screening tool; a ratio of MCV/RBC count ** 13** suggests Iron Deficiency Anemia. * NESTROFT has a high sensitivity (approx. 95-98%), making it ideal for mass screening in resource-limited settings.

Q: Which of the following is NOT a feature of TAR syndrome?

Ventricular septal defect. **Explanation:** **TAR Syndrome (Thrombocytopenia-Absent Radius)** is a rare genetic disorder characterized by the hallmark association of bilateral radial aplasia and a low platelet count. 1. **Why Option C is the correct answer:** While approximately 33% of patients with TAR syndrome have congenital heart defects, the most common cardiac anomaly is **Tetralogy of Fallot (TOF)** or **Atrial Septal Defect (ASD)**. Ventricular Septal Defect (VSD) is not a classic or defining feature of this syndrome, making it the "least likely" or "not a feature" in a comparative MCQ context. 2. **Analysis of Incorrect Options:** * **A. Thrombocytopenia:** This is a mandatory feature. It is usually most severe in the first year of life and may improve over time. * **B. Multiple skeletal anomalies:** The defining feature is **bilateral absence of the radius**. Crucially, unlike Fanconi Anemia, the **thumbs are always present** in TAR syndrome. Other anomalies can include ulnar or humeral hypoplasia and lower limb defects (e.g., dislocated hips). * **D. Autosomal recessive inheritance:** TAR syndrome follows an autosomal recessive pattern, typically involving a microdeletion on chromosome **1q21.1** combined with a specific mutation in the **RBM8A gene**. **High-Yield Clinical Pearls for NEET-PG:** * **The "Thumb" Rule:** In TAR syndrome, the **thumb is present**. In Fanconi Anemia and Holt-Oram Syndrome, the thumb is typically absent or hypoplastic. * **Hematology:** Platelet counts usually stabilize after the first year of life. * **Leukemoid Reaction:** Patients may show an extremely high WBC count (mimicking leukemia) during infancy. * **Cow’s Milk Allergy:** There is a known high association between TAR syndrome and cow's milk intolerance.

Q: Hemangiomas are associated with all of the following conditions, except?

Cowden's syndrome. **Explanation:** The correct answer is **Cowden’s syndrome**. **Cowden’s syndrome** is an autosomal dominant condition caused by mutations in the **PTEN gene**. It is characterized by multiple hamartomas (benign growths) in various tissues and an increased risk of malignancies (breast, thyroid, endometrial). While it involves vascular malformations, it is **not** typically associated with true hemangiomas. **Analysis of other options:** * **Rendu-Osler-Weber syndrome (Hereditary Hemorrhagic Telangiectasia):** This is characterized by multiple telangiectasias and arteriovenous malformations (AVMs) in the skin, mucous membranes, and visceral organs (lungs, liver, brain). * **Sturge-Weber Syndrome (Encephalotrigeminal Angiomatosis):** This involves a classic **Port-wine stain** (a capillary malformation/hemangioma) in the distribution of the trigeminal nerve, along with leptomeningeal angiomas and glaucoma. * **Kasabach-Merritt syndrome:** This is a life-threatening condition where a rapidly growing vascular tumor (usually a **Tufted Angioma** or **Kaposiform Hemangioendothelioma**) leads to consumptive coagulopathy and severe thrombocytopenia due to platelet trapping within the lesion. **High-Yield Clinical Pearls for NEET-PG:** * **PHACE Syndrome:** A high-yield association with large segmental infantile hemangiomas (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Cardiac defects, Eye anomalies). * **Treatment of Choice:** Oral **Propranolol** is now the first-line treatment for complicated infantile hemangiomas. * **Kasabach-Merritt:** Remember it presents with "Tumor + Thrombocytopenia + Consumptive Coagulopathy."

Q: A 6-month-old infant presents with Hb of 6 gm% and features of anemia. Peripheral blood smear shows target cells. The family history is positive for similar complaints. Which of the following investigations can best diagnose this condition?

Hb electrophoresis. ### Explanation The clinical presentation of a 6-month-old infant with severe anemia (Hb 6 gm%), target cells on peripheral smear, and a positive family history strongly suggests a **Hereditary Hemoglobinopathy**, most likely **Beta-Thalassemia Major**. **1. Why Hb Electrophoresis is Correct:** Hb electrophoresis is the gold standard for diagnosing hemoglobinopathies. In Beta-Thalassemia Major, there is a partial or total absence of beta-globin chain synthesis. Electrophoresis typically reveals a significant increase in **HbF (Fetal Hemoglobin)** and variable levels of HbA2, with little to no HbA. This confirms the diagnosis by identifying the specific hemoglobin variants present. **2. Why Other Options are Incorrect:** * **ELISA:** This is an immunological technique used to detect antigens or antibodies (e.g., HIV, Hepatitis). It has no role in diagnosing structural hemoglobin defects. * **Coombs’ Test:** This is used to diagnose **Autoimmune Hemolytic Anemia (AIHA)** by detecting antibodies on the RBC surface (Direct) or in the serum (Indirect). The presence of target cells and family history points toward a genetic defect rather than an immune-mediated one. * **Osmotic Fragility:** This is the screening test for **Hereditary Spherocytosis**. In Thalassemia, osmotic fragility is actually *decreased* (cells are more resistant to lysis), but it is not a confirmatory or specific diagnostic test for the condition. **Clinical Pearls for NEET-PG:** * **Target Cells (Codocytes):** Classically seen in Thalassemia, Liver disease, Asplenia, and HbC disease. * **Age of Presentation:** Beta-Thalassemia Major typically presents at **6 months of age** because this is when the physiological switch from HbF to HbA occurs. * **Mentzer Index:** (MCV/RBC count) 13 suggests Iron Deficiency Anemia. * **NEET-PG High-Yield:** On electrophoresis, **HbA2 > 3.5%** is diagnostic for Beta-Thalassemia Trait.

Q: An 8-year-old child presents with acute lymphadenopathy and fever, with 20% lymphocytosis. What is the most likely diagnosis?

Infectious mononucleosis. ### Explanation The clinical presentation of acute fever, lymphadenopathy, and significant lymphocytosis in a child is a classic triad for **Infectious Mononucleosis (IM)**, most commonly caused by the Epstein-Barr Virus (EBV). **Why Option A is Correct:** Infectious mononucleosis typically presents with the "mononucleosis triad": fever, pharyngitis, and lymphadenopathy (usually posterior cervical). A key hematological hallmark is **absolute lymphocytosis** (often >50% of the total WBC count) with at least **10% atypical lymphocytes** (Downey cells). These atypical cells are actually activated T-lymphocytes reacting against EBV-infected B-cells. **Why Other Options are Incorrect:** * **Option B (ALL):** While ALL presents with lymphadenopathy and fever, the "lymphocytosis" in leukemia consists of **lymphoblasts** (immature cells), not mature atypical lymphocytes. Furthermore, ALL is usually associated with cytopenias (anemia, thrombocytopenia), which are absent here. * **Option C (Pulmonary TB):** TB typically presents with chronic (not acute) lymphadenopathy, night sweats, and weight loss. While it causes lymphocytosis, it does not typically present with the acute febrile syndrome described. * **Option D (Alpha-hemolytic Strep):** Bacterial infections usually cause **neutrophilia** with a "left shift" (increased band cells), rather than lymphocytosis. **NEET-PG High-Yield Pearls:** * **Diagnostic Test:** The **Monospot test** (Heterophile antibody test) is the initial screening test of choice. * **Atypical Lymphocytes:** Also seen in CMV, Toxoplasmosis, and Viral Hepatitis, but EBV is the most common cause. * **Clinical Caution:** Avoid prescribing **Ampicillin or Amoxicillin** in suspected IM, as it frequently causes a characteristic maculopapular rash. * **Complication:** Splenic rupture is a rare but serious complication; patients should avoid contact sports for 3–4 weeks.

Q: Hydrops fetalis in 'Bas' hemoglobinopathy is lethal because:

Hb Bas cannot release oxygen to fetal tissues.. **Explanation:** **Hb Barts (Hb Bart's)** is the hallmark of **Alpha-thalassemia major** (deletion of all four alpha-globin genes). In the absence of alpha chains, the excess gamma ($\gamma$) chains produced during the fetal period form tetramers ($\gamma_4$), known as Hb Barts. **1. Why Option C is Correct:** The physiological hallmark of Hb Barts is its **extremely high oxygen affinity**. While normal fetal hemoglobin (HbF) has a high affinity to pull oxygen from the mother, Hb Barts binds oxygen so tightly that it **fails to release it to fetal tissues**. This results in severe tissue hypoxia, high-output cardiac failure, and the massive edema seen in **Hydrops Fetalis**. On the oxygen-dissociation curve, Hb Barts causes a massive leftward shift and lacks the sigmoid shape (it is hyperbolic), behaving more like myoglobin than hemoglobin. **2. Why the other options are incorrect:** * **Option A:** Hb Barts *can* bind oxygen; in fact, it binds it much more readily than normal hemoglobin. The pathology lies in the delivery, not the uptake. * **Option B:** This describes **Beta-thalassemia major**. In alpha-thalassemia, it is the excess *gamma* (fetal) or *beta* (adult) chains that form soluble tetramers (Hb Barts and HbH, respectively), not insoluble alpha precipitates. * **Option D:** While the cells are microcytic and hypochromic, the primary cause of death is hypoxia-induced heart failure, not mechanical trapping in the placenta. **High-Yield Clinical Pearls for NEET-PG:** * **Genotype:** --/-- (Homozygous $\alpha^0$ thalassemia). * **Hb Barts:** $\gamma_4$ tetramers. * **HbH Disease:** $\beta_4$ tetramers (3-gene deletion); presents as microcytic hemolytic anemia, usually not hydrops. * **Peripheral Smear:** Shows nucleated RBCs and marked hypochromia. * **Electrophoresis:** Hb Barts is the fast-moving band on alkaline electrophoresis.

Q: Which of the following statements about Schwachman-Diamond syndrome is false?

Splenomegaly. **Explanation:** **Shwachman-Diamond Syndrome (SDS)** is an autosomal recessive multisystem disorder characterized by **exocrine pancreatic insufficiency** and **bone marrow failure**. **Why Splenomegaly is the Correct Answer (False Statement):** In SDS, the bone marrow is typically hypocellular, leading to pancytopenia. Unlike certain storage disorders or hemolytic anemias, SDS is **not** associated with splenomegaly. In fact, the spleen is often small or functionally hyposplenic in these patients. The presence of significant splenomegaly should prompt a clinician to look for alternative diagnoses, such as Gaucher disease or leukemia. **Analysis of Other Options:** * **Bleeding (Option A):** This is a common early manifestation due to **thrombocytopenia** (low platelet count), which is often the first hematologic abnormality to appear in infancy. * **Infections (Option C):** Neutropenia (either persistent or cyclic) is the most common cytopenia in SDS, making these patients highly susceptible to recurrent bacterial infections, pneumonia, and skin abscesses. * **Hypocellular Bone Marrow (Option D):** This is a hallmark of the disease. The marrow shows reduced cellularity with fatty infiltration, eventually progressing to aplastic anemia in some cases. **NEET-PG High-Yield Pearls for SDS:** 1. **Genetics:** Most commonly due to mutations in the **SBDS gene** on chromosome 7. 2. **Clinical Triad:** Exocrine pancreatic insufficiency (steatorrhea/malabsorption), bone marrow dysfunction (pancytopenia), and skeletal abnormalities (metaphyseal dysostosis). 3. **Diagnosis:** Low serum trypsinogen and fecal elastase levels; sweat chloride test is **normal** (distinguishes it from Cystic Fibrosis). 4. **Malignancy Risk:** High risk of transformation to **Acute Myeloid Leukemia (AML)** or Myelodysplastic Syndrome (MDS).

Question 1

What is the best treatment for Sickle cell anemia?

Accepted Answer

Hydroxyurea

Answer

Sulphonamide

Answer

Iron Injection

Answer

Blood transfusion

Question 2

The NESTROFT test is used in the screening of which condition?

Accepted Answer

Thalassemia

Answer

Autoimmune hemolytic anemia

Answer

Spherocytosis

Answer

G6PD deficiency

Question 3

Which of the following is NOT a feature of TAR syndrome?

Accepted Answer

Ventricular septal defect

Answer

Thrombocytopenia

Answer

Multiple skeletal anomalies

Answer

Autosomal recessive type of inheritance

Question 4

What is the cut-off value for anemia in children aged 6 months to 6 years?

Accepted Answer

12 gm/dl

Answer

10 gm/dl

Answer

11 gm/dl

Answer

13 gm/dl of venous blood

Question 5

Hemangiomas are associated with all of the following conditions, except?

Accepted Answer

Cowden's syndrome

Answer

Rendu-Osler-Weber syndrome

Answer

Sturge-Weber Syndrome

Answer

Kasabach-Merritt syndrome

Question 6

A 6-month-old infant presents with Hb of 6 gm% and features of anemia. Peripheral blood smear shows target cells. The family history is positive for similar complaints. Which of the following investigations can best diagnose this condition?

Accepted Answer

Hb electrophoresis

Answer

ELISA

Answer

Coomb's Test

Answer

Osmotic fragility

Question 7

An 8-year-old child presents with acute lymphadenopathy and fever, with 20% lymphocytosis. What is the most likely diagnosis?

Accepted Answer

Infectious mononucleosis

Answer

Acute lymphoblastic leukemia (ALL)

Answer

Pulmonary tuberculosis (Koch's)

Answer

Alpha-hemolytic Streptococcal infection

Question 8

Hydrops fetalis in 'Bas' hemoglobinopathy is lethal because:

Accepted Answer

Hb Bas cannot release oxygen to fetal tissues.

Answer

Hb Bas cannot bind oxygen.

Answer

Excess alpha-globin forms insoluble precipitates.

Answer

Microcytic red cells become trapped in the placenta.

Question 9

Which of the following microorganisms is least likely to cause infection in patients with sickle cell anemia?

Accepted Answer

Mycobacterium tuberculosis

Answer

Streptococcus pneumoniae

Answer

Haemophilus influenzae type b

Answer

All of the above

Question 10

Which of the following statements about Schwachman-Diamond syndrome is false?

Accepted Answer

Splenomegaly

Answer

Bleeding is the most common early symptom

Answer

Infections

Answer

Hypocellular bone marrow

Hematology — MCQs

Hematology — MCQs

On this page

Practice by Chapter

Want unlimited practice?