Hematology Practice Questions

Q: A 6-month-old child brought by parents for diffuse ecchymosis on extremities and trunk. Probable diagnosis is? (Recent NEET Pattern 2016-17)

Protein C deficiency. ***Protein C deficiency*** - A 6-month-old with **diffuse ecchymoses on extremities and trunk** is classic for **homozygous protein C deficiency** presenting as **purpura fulminans**. - Severe congenital protein C deficiency typically manifests in **early infancy** (within first few weeks to months) with widespread purpuric lesions, skin necrosis, and thrombotic complications. - The presentation includes **large ecchymotic patches** that can progress to necrosis, affecting extremities and trunk as described. - This is the **most likely diagnosis** for this age group and clinical presentation in the absence of other systemic features. *Disseminated intravascular coagulation* - DIC causes diffuse bleeding and purpura due to consumption coagulopathy and microthrombi formation. - However, DIC is a **secondary complication** requiring an underlying trigger (sepsis, trauma, malignancy) with acute systemic illness. - The child would typically present with **multiple bleeding sites**, systemic signs, and evidence of the underlying condition—not isolated ecchymosis. *A.P.L.A.S (Antiphospholipid Antibody Syndrome)* - Neonatal antiphospholipid syndrome from maternal antibodies presents in the **neonatal period** (first 28 days of life), not at 6 months. - APLAS primarily causes **thrombotic events** (stroke, renal vein thrombosis) rather than diffuse ecchymosis alone. - This diagnosis is **extremely rare** in infancy and would not be the probable diagnosis for isolated ecchymotic presentation at this age. *Dengue hemorrhagic fever* - Dengue requires **exposure in endemic areas** and presents with fever, headache, myalgia, and characteristic rash followed by hemorrhagic manifestations. - More common in **older children and adults**; the 6-month-old age and absence of fever/systemic symptoms make this unlikely. - The clinical picture describes ecchymosis without mention of fever or other dengue features.

Q: A 3-year-old child presents with sudden onset generalized petechiae and bruise on forehead. Sternal tenderness is absent and liver and spleen are not palpable. Bone marrow aspiration is normal. Probable cause is? (Recent NEET Pattern 2016-17)

Acute ITP. ***Acute ITP*** - A 3-year-old child presenting with **sudden onset petechiae and ecchymoses (bruise on forehead)**, without signs of systemic illness (no sternal tenderness, non-palpable liver/spleen), and a normal bone marrow is highly suggestive of **Idiopathic Thrombocytopenic Purpura (ITP)**. ITP is characterized by isolated thrombocytopenia due to autoimmune destruction of platelets. - The **normal bone marrow**, in particular, rules out conditions like leukemia and aplastic anemia, where bone marrow pathology would be evident. *Aplastic anemia* - **Aplastic anemia** would typically present with **pancytopenia** (affecting all blood cell lines), leading to symptoms like pallor, fatigue, infections, and bleeding. - A **bone marrow aspiration** in aplastic anemia would show a **hypocellular marrow** with a reduction in hematopoietic cells, which contradicts the "normal" finding in this case. *Acute leukemia* - **Acute leukemia** in children often presents with **bone pain (sternal tenderness)**, fever, fatigue, and organomegaly (enlarged liver and spleen) due to infiltration of leukemic cells. - A **bone marrow aspiration** would reveal a **hypercellular marrow** with a large proportion of blasts, which is not consistent with the "normal" bone marrow finding provided. *Dengue hemorrhagic fever* - **Dengue hemorrhagic fever** typically presents with symptoms like high fever, severe headache, muscle and joint pain, and often signs of bleeding (like petechiae and bruising) and can lead to severe thrombocytopenia. - However, it is usually preceded by a **fever** and other systemic symptoms, which are not mentioned in this sudden onset presentation in the given case scenario.

Q: An 8-year-old boy with requirement of multiple blood transfusions. X-ray skull was performed. All are true about the condition shown except:

Iron chelation leads to bronze diabetes. ***Iron chelation leads to bronze diabetes*** - **Bronze diabetes** is caused by **hemochromatosis** (iron overload), where excess iron deposits in the pancreas, leading to diabetes and skin bronzing. Iron chelation therapy is given to **prevent** or treat iron overload, therefore it would logically **prevent** or reverse bronze diabetes, not cause it. - While chronic blood transfusions can cause iron overload, leading to bronze diabetes, chelation therapy is the treatment to prevent this complication and associated organ damage. *Squaring of metacarpal bones* - This is a typical radiological finding in **thalassemia major**, caused by **expanded bone marrow** in response to chronic anemia. - The abnormal erythropoiesis leads to widening of the medullary cavity and thinning of the cortical bone, giving the metacarpals a characteristic rectangular or "squared" appearance. *Erythroid hyperplasia in liver and spleen* - In conditions like thalassemia, the body attempts to compensate for ineffective erythropoiesis by activating **extramedullary hematopoiesis** in organs like the liver and spleen. - This results in the proliferation of erythroid precursors (erythroid hyperplasia) in these organs, contributing to hepatosplenomegaly. *Splenectomy if transfusion requirement increases by 50% over last year* - **Splenectomy** is a consideration in patients with thalassemia who have significantly increased transfusion requirements, usually defined as a 30-50% increase, due to **hypersplenism**. - Hypersplenism leads to increased destruction of red blood cells and premature removal of transfused cells, necessitating frequent transfusions.

Q: A 12-year-old child presents with acute kidney injury after a bout of dysentery. Not seen is:

Normal serum haptoglobin. ***Normal serum haptoglobin*** - In hemolytic conditions like HUS (which classically follows dysentery in children), **haptoglobin** is consumed as it binds to free hemoglobin, leading to **decreased serum haptoglobin levels**, not normal levels. - The patient's presentation of acute kidney injury after dysentery is highly suggestive of **hemolytic uremic syndrome (HUS)**, a form of microangiopathic hemolytic anemia where red blood cells are destroyed. *MAHA* - **Microangiopathic hemolytic anemia (MAHA)** is central to the pathophysiology of HUS, where red blood cells are mechanically fragmented as they pass through narrowed and damaged microvessels. - The presence of **schistocytes** on a peripheral blood smear is a hallmark of MAHA. *Schistocytes* - **Schistocytes** (fragmented red blood cells) are a key laboratory finding in HUS, resulting from the shearing of red blood cells as they navigate obstructed microvasculature. - Their presence confirms the diagnosis of **microangiopathic hemolytic anemia**. *Thrombocytopenia* - **Thrombocytopenia** is a common feature of HUS, caused by the consumption of platelets within the microthrombi that form in the damaged microcirculation. - This platelet consumption contributes to the characteristic triad of HUS: hemolytic anemia, thrombocytopenia, and acute kidney injury.

Q: A 10-year-old boy presented with fatigue. Investigations revealed: Hemoglobin, 9 g/dL; MCV, 60 fL; MCH, 20 pg; and serum ferritin, 185 µg/L. The TLC was elevated and showed predominant lymphocytes and neutrophils. What is the likely diagnosis in this patient? **Normal values:** - Serum ferritin: 50-150 µg/L

Beta thalassemia trait. ***Beta thalassemia trait*** - The combination of **microcytic hypochromic anemia** (low MCV, MCH) with **normal to elevated ferritin** (185 µg/L is above the normal range of 50-150 µg/L) is highly suggestive of **beta thalassemia trait**, as iron stores are typically adequate or increased. - An elevated TLC with predominant lymphocytes and neutrophils is nonspecific but does not rule out thalassemia, as secondary infections or inflammatory processes can occur. *Anemia of chronic disease* - While anemia of chronic disease can cause **microcytic or normocytic anemia** and elevated ferritin (as ferritin is an acute phase reactant), the degree of **microcytosis** (MCV 60 fL) is more profound than typically seen in ACD. - ACD usually involves **inflammation or infection**, but the lab values provided more strongly point away from pure ACD. *Iron deficiency anemia* - **Iron deficiency anemia** is characterized by **microcytic hypochromic anemia** but would present with **low serum ferritin** levels, indicating depleted iron stores. - The patient's **elevated ferritin** (185 µg/L) rules out iron deficiency as the primary cause. *Lead poisoning* - **Lead poisoning** can cause **microcytic anemia** by interfering with heme synthesis, but it is typically associated with a **basophilic stippling** on peripheral blood smear and elevated blood lead levels. - It does not typically present with **elevated ferritin** as a classic feature, and the overall clinical picture is more consistent with a genetic hemoglobinopathy.

Q: Which of the following does not require a lumbar puncture in children?

HL. ***HL*** - While central nervous system (CNS) involvement is possible in Hodgkin lymphoma (HL), it is **rare** and does not routinely warrant a **lumbar puncture** for initial staging or surveillance in asymptomatic children. - HL primarily affects **lymph nodes** and the **spleen**, with CNS spread being an uncommon complication that typically presents with specific neurological symptoms. *AML* - **Acute myeloid leukemia (AML)** has a significant risk of **CNS involvement**, requiring a **lumbar puncture** for diagnostic staging and administration of intrathecal chemotherapy. - CNS prophylaxis and treatment are crucial in AML to prevent and manage **leptomeningeal disease**. *NHL* - **Non-Hodgkin lymphoma (NHL)**, particularly aggressive subtypes like Burkitt lymphoma or lymphoblastic lymphoma, has a **high propensity for CNS spread**. - A **lumbar puncture** is essential for staging to detect CNS involvement and guide the need for intrathecal chemotherapy or radiation. *ALL* - **Acute lymphoblastic leukemia (ALL)** carries a well-documented **high risk of CNS infiltration**, necessitating routine **lumbar punctures** at diagnosis for CNS staging and throughout treatment for intrathecal chemotherapy. - CNS prophylaxis is a cornerstone of ALL treatment to prevent **leptomeningeal relapse**.

Q: A previously healthy child has sudden onset of red spots on body. There is a history of a preceding viral infection 1-4 weeks before the onset.

Idiopathic thrombocytopenic purpura. ***Idiopathic thrombocytopenic purpura (ITP)*** - This presentation, especially in a previously healthy child with a preceding viral infection 1-4 weeks prior, is highly characteristic of **acute ITP**, leading to **purpuric rash** (red spots). - The preceding viral infection often triggers an autoimmune response causing destruction of **platelets**, resulting in **thrombocytopenia**. *Dengue fever* - Dengue fever typically presents with **acute onset of fever**, **headache**, **myalgia**, and a rash that appears 3-4 days after fever onset, often with a shorter incubation period than 1-4 weeks. - While it can cause petechiae due to **thrombocytopenia**, the symptom constellation does not perfectly align with the scenario, particularly the sudden onset of spots without mention of fever or other acute symptoms. *Hemophilia A* - **Hemophilia A** is a **hereditary bleeding disorder** causing deficits in **Factor VIII**, leading to spontaneous bleeding into joints and muscles, and prolonged bleeding after trauma. - It does not present as sudden onset red spots (petechiae/purpura) following a viral infection but rather as larger **hematomas** or **hemarthroses**, and it's a chronic condition, not typically triggered by recent infection. *Thrombotic thrombocytopenic purpura (TTP)* - TTP is characterized by the **pentad of symptoms**: **fever**, **neurological symptoms**, **renal dysfunction**, **microangiopathic hemolytic anemia**, and **thrombocytopenia**. - While it involves thrombocytopenia and can cause purpura, the patient's presentation lacks the other severe systemic features typically associated with TTP, and it's less commonly triggered by a simple viral infection in children.

Q: A male child with gallbladder stone has Hb of 6 gm%, serum bilirubin 2.5 mg%, and high urobilinogen in urine. The diagnosis is:

Hemolytic jaundice. **Hemolytic jaundice** - The presence of **anemia** (Hb 6 gm/DL), **unconjugated hyperbilirubinemia** (total bilirubin 2.5 mg/dL suggests this given normal liver function, though direct bilirubin is not specified, indirect hyperbilirubinemia is typical), and **increased urinary urobilinogen** are classic signs of increased red blood cell destruction [1]. - **Gallbladder stones** (cholelithiasis) in a child with anemia and hemolytic features suggest conditions like **hereditary spherocytosis** or **sickle cell anemia** where chronic hemolysis leads to pigment gallstone formation. *Hepatocellular jaundice* - This would typically involve significantly elevated **liver enzymes** (ALT, AST) and often a mix of conjugated and unconjugated hyperbilirubinemia due to impaired hepatic uptake, conjugation, and excretion. - High urobilinogen in urine is not specific to hepatocellular damage; it reflects increased bilirubin load to the liver. *Secondary biliary cirrhosis* - This is a long-term complication of chronic **biliary obstruction**, leading to liver fibrosis and eventually cirrhosis. While gallbladder stones *can* lead to obstruction, the primary presentation here points to a hemolytic process, and **cirrhosis** would involve more pronounced liver dysfunction and portal hypertension, not just anemia and hyperbilirubinemia. - The symptoms described are acute and point towards hemolysis rather than chronic liver disease. *Obstructive jaundice* - Caused by a blockage in the bile ducts, leading to impaired bilirubin excretion. This would result in predominantly **conjugated hyperbilirubinemia** and **dark urine** with **pale stools**, and often **absent or low urinary urobilinogen** because bilirubin cannot reach the gut for conversion [1]. - The high urinary urobilinogen in this case explicitly rules out complete biliary obstruction, and unconjugated bilirubin is typically elevated in hemolytic jaundice.

Q: Which of the following is the most common hematologic malignancy associated with Neurofibromatosis-1 (NF-1) in a child?

Juvenile Myelomonocytic Leukemia (JMML). ***Juvenile Myelomonocytic Leukemia (JMML)*** - **JMML** is a myelodysplastic/myeloproliferative neoplasm that is strongly associated with **NF-1** in children, particularly due to mutations in the *NF1* gene. - Children with **NF-1** have a significantly increased risk of developing **JMML** compared to the general pediatric population. *Chronic Myeloid Leukemia (CML)* - While CML can occur in children, it is typically associated with the **Philadelphia chromosome (BCR-ABL1 fusion gene)** and not a common tumor directly linked to NF-1. - **CML** is relatively rare in childhood compared to other leukemias and is not a characteristic complication of NF-1. *Acute Lymphoblastic Leukemia (ALL)* - **ALL** is the most common childhood cancer overall, but its association with **NF-1** is not as specific or strong as that of **JMML**. - While children with NF-1 may have a slightly increased risk of certain cancers, **ALL** is not the *most common* tumor directly linked to NF-1. *Acute Myeloid Leukemia (AML)* - **AML** has a weak association with **NF-1**, particularly specific subtypes, but it is less frequent and less specifically linked than **JMML**. - The direct genetic pathway involving the **NF1 gene** mutation in the development of **AML** is not as clearly defined as it is for **JMML**.

Question 1

A 1-year-old infant with the following lesion on face. CNS examination was normal. Blood counts show thrombocytopenia with P. smear suggestive of microangiopathic changes. Probable diagnosis is:

Accepted Answer

Kasabach-Merritt syndrome

Answer

Tuberous sclerosis

Answer

Thrombotic thrombocytopenic purpura

Answer

Sturge-Weber syndrome

Question 2

A 6-month-old child brought by parents for diffuse ecchymosis on extremities and trunk. Probable diagnosis is? (Recent NEET Pattern 2016-17)

Accepted Answer

Protein C deficiency

Answer

Disseminated intravascular coagulation

Answer

A.P.L.A.S

Answer

Dengue hemorrhagic fever

Question 3

A 3-year-old child presents with sudden onset generalized petechiae and bruise on forehead. Sternal tenderness is absent and liver and spleen are not palpable. Bone marrow aspiration is normal. Probable cause is? (Recent NEET Pattern 2016-17)

Accepted Answer

Acute ITP

Answer

Aplastic anemia

Answer

Acute leukemia

Answer

Dengue hemorrhagic fever

Question 4

An 8-year-old boy with requirement of multiple blood transfusions. X-ray skull was performed. All are true about the condition shown except:

Accepted Answer

Iron chelation leads to bronze diabetes

Answer

Squaring of metacarpal bones

Answer

Erythroid hyperplasia in liver and spleen

Answer

Splenectomy if transfusion requirement increases by 50% over last year

Question 5

A 12-year-old child presents with acute kidney injury after a bout of dysentery. Not seen is:

Accepted Answer

Normal serum haptoglobin

Answer

MAHA

Answer

Schistocytes

Answer

Thrombocytopenia

Question 6

A 10-year-old boy presented with fatigue. Investigations revealed: Hemoglobin, 9 g/dL; MCV, 60 fL; MCH, 20 pg; and serum ferritin, 185 µg/L. The TLC was elevated and showed predominant lymphocytes and neutrophils. What is the likely diagnosis in this patient?

**Normal values:**
- Serum ferritin: 50-150 µg/L

Accepted Answer

Beta thalassemia trait

Answer

Anemia of chronic disease

Answer

Iron deficiency anemia

Answer

Lead poisoning

Question 7

Which of the following does not require a lumbar puncture in children?

Accepted Answer

HL

Answer

AML

Answer

NHL

Answer

ALL

Question 8

A previously healthy child has sudden onset of red spots on body. There is a history of a preceding viral infection 1-4 weeks before the onset.

Accepted Answer

Idiopathic thrombocytopenic purpura

Answer

Dengue fever

Answer

Hemophilia A

Answer

Thrombotic thrombocytopenic purpura

Question 9

A male child with gallbladder stone has Hb of 6 gm%, serum bilirubin 2.5 mg%, and high urobilinogen in urine. The diagnosis is:

Accepted Answer

Hemolytic jaundice

Answer

Hepatocellular jaundice

Answer

Secondary biliary cirrhosis

Answer

Obstructive jaundice

Question 10

Which of the following is the most common hematologic malignancy associated with Neurofibromatosis-1 (NF-1) in a child?

Accepted Answer

Juvenile Myelomonocytic Leukemia (JMML)

Answer

Chronic Myeloid Leukemia (CML)

Answer

Acute Lymphoblastic Leukemia (ALL)

Answer

Acute Myeloid Leukemia (AML)

Hematology — MCQs

Hematology — MCQs

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