Hematology Practice Questions

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.

Q: A mother brings her 2-year-old boy with a history of pallor. Examination reveals pallor, petechiae, and splenomegaly. Which of the following is the most likely diagnosis?

Acute leukaemia. ### Explanation The clinical triad of **pallor, petechiae, and splenomegaly** in a young child is a classic presentation of **Acute Leukemia** (most commonly Acute Lymphoblastic Leukemia - ALL in this age group). #### Why Acute Leukemia is Correct: The underlying mechanism is **bone marrow infiltration** by malignant blast cells. This leads to: 1. **Anemia:** Causing pallor. 2. **Thrombocytopenia:** Leading to petechiae and mucosal bleeding. 3. **Extramedullary involvement:** Infiltration of the liver and spleen results in hepatosplenomegaly. The presence of both cytopenias (anemia + thrombocytopenia) and organomegaly strongly points toward a bone marrow malignancy rather than a simple nutritional deficiency or isolated platelet disorder. #### Why Other Options are Incorrect: * **Thalassaemia:** While it presents with severe pallor and massive splenomegaly (due to extramedullary hematopoiesis), it does **not** cause thrombocytopenia or petechiae. In fact, platelet counts are usually normal or elevated. * **Hodgkin’s Lymphoma:** Typically presents with painless lymphadenopathy (often cervical). While splenomegaly can occur, it rarely presents with acute bone marrow failure (petechiae) in the early stages. * **Idiopathic Thrombocytopenic Purpura (ITP):** While ITP causes petechiae, the **spleen is typically NOT palpable**. If splenomegaly is present, an alternative diagnosis like leukemia must be ruled out. Furthermore, ITP does not cause anemia (pallor) unless there is significant hemorrhage. #### NEET-PG High-Yield Pearls: * **ALL** is the most common childhood malignancy (Peak age: 2–5 years). * **Diagnostic Gold Standard:** Bone marrow aspiration showing >20% blasts. * **Prognostic Marker:** Presence of the Philadelphia chromosome t(9;22) indicates a poor prognosis in ALL. * **Clinical Clue:** Bone pain (refusal to walk) in a pale child with petechiae is a high-yield indicator for Leukemia.

Q: Aplastic anemia with skeletal abnormalities, short stature, and pancreatic exocrine failure suggests which diagnosis?

Shwachman-Diamond syndrome. **Explanation:** **Shwachman-Diamond Syndrome (SDS)** is the correct diagnosis because it is classically characterized by the triad of **pancreatic exocrine insufficiency** (presenting as malabsorption/steatorrhea), **bone marrow failure** (initially neutropenia, progressing to aplastic anemia), and **skeletal abnormalities** (metaphyseal dysostosis and short stature). It is the second most common cause of inherited pancreatic insufficiency after Cystic Fibrosis. **Analysis of Incorrect Options:** * **Fanconi Anemia:** While it presents with aplastic anemia, short stature, and skeletal defects (classically **absent/hypoplastic radii or thumbs**), it does **not** involve pancreatic exocrine failure. It is also associated with hyperpigmentation (café-au-lait spots). * **Diamond-Blackfan Anemia:** This is a **pure red cell aplasia** (not global aplasia) presenting in infancy. While it features skeletal anomalies (triphalangeal thumbs), it lacks pancreatic involvement and neutropenia. * **G6PD Deficiency:** This is an enzyme defect causing **episodic hemolytic anemia** triggered by oxidative stress (fava beans, infections). It does not cause bone marrow failure or skeletal malformations. **High-Yield Clinical Pearls for NEET-PG:** * **SDS Genetics:** Most cases are due to mutations in the **SBDS gene** (Autosomal Recessive). * **Differentiating SDS from Cystic Fibrosis:** SDS patients have a **normal sweat chloride test** despite pancreatic symptoms. * **Malignancy Risk:** Patients with SDS have a significantly increased risk of developing **Myelodysplastic Syndrome (MDS)** and **Acute Myeloid Leukemia (AML)**. * **Lab Hallmark:** Intermittent or persistent **neutropenia** is often the earliest hematologic sign.

Q: In Sickle cell disease, aplastic crisis is due to which type of infection?

Parvovirus B19 infection. **Explanation:** In Sickle Cell Disease (SCD), the lifespan of a red blood cell (RBC) is significantly reduced (10–20 days compared to the normal 120 days). To maintain hemoglobin levels, the bone marrow must work at maximum capacity. **Parvovirus B19** is the correct answer because it specifically targets and destroys **erythroid progenitor cells** in the bone marrow by binding to the P-antigen. In healthy individuals, a brief pause in RBC production is clinically silent. However, in SCD patients, this sudden cessation of erythropoiesis leads to a rapid drop in hemoglobin and a disappearance of reticulocytes from the peripheral blood, resulting in a life-threatening **Aplastic Crisis**. **Analysis of Incorrect Options:** * **A. Herpes infection:** Herpes simplex viruses typically cause mucocutaneous lesions or encephalitis; they do not specifically target erythroid precursors. * **B. Measles infection:** Measles causes respiratory symptoms and a characteristic maculopapular rash (Koplik spots) but is not associated with bone marrow suppression in SCD. * **D. Rubella infection:** While Rubella can cause congenital defects or a mild febrile illness with rash, it does not trigger aplastic crises. **High-Yield Clinical Pearls for NEET-PG:** * **Hallmark of Aplastic Crisis:** Severe anemia + **Reticulocytopenia** (Reticulocyte count <1%). This distinguishes it from a Hyperhemolytic crisis where reticulocytes are elevated. * **Diagnosis:** Detection of Parvovirus B19 IgM antibodies or PCR for viral DNA. * **Management:** Urgent blood transfusion is the mainstay of treatment. * **Other Crises in SCD:** Vaso-occlusive crisis (most common), Splenic Sequestration (sudden splenomegaly + drop in Hb), and Acute Chest Syndrome.

Question 1

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 2

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 3

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 4

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

Question 5

What is false regarding iron absorption?

Accepted Answer

It primarily occurs in the duodenum.

Answer

Approximately 10% of dietary iron is absorbed.

Answer

Ascorbic acid enhances iron absorption.

Answer

Oral iron administration can increase the incidence of breath-holding spells.

Question 6

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 7

A mother brings her 2-year-old boy with a history of pallor. Examination reveals pallor, petechiae, and splenomegaly. Which of the following is the most likely diagnosis?

Accepted Answer

Acute leukaemia

Answer

Thalassaemia

Answer

Hodgkin's lymphoma

Answer

Idiopathic thrombocytopenic purpura

Question 8

Aplastic anemia with skeletal abnormalities, short stature, and pancreatic exocrine failure suggests which diagnosis?

Accepted Answer

Shwachman-Diamond syndrome

Answer

Fanconi anemia

Answer

Diamond-Blackfan anemia

Answer

G6PD deficiency

Question 9

Which of the following is characteristic of Fanconi Anemia?

Accepted Answer

Characteristic chromosomal breakage studies are seen with DEB and Mitomycin C.

Answer

It is an autosomal dominant condition.

Answer

It commonly occurs in old age.

Answer

The bone marrow is hypercellular.

Question 10

In Sickle cell disease, aplastic crisis is due to which type of infection?

Accepted Answer

Parvovirus B19 infection

Answer

Herpes infection

Answer

Measles infection

Answer

Rubella infection

Hematology — MCQs

Hematology — MCQs

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