Hematology Practice Questions

Q: A 40-year-old male experiences hot flushes during bathing. Hb: 20 g/dL, Platelet: 89,000/mL, WBC: 30,000/mL. Investigation revealed JAK2 mutation. What is the most likely diagnosis?

PCV. PCV - **Polycythemia vera (PCV)** is characterized by an elevated red blood cell count (**Hb: 20 g/dL**), often accompanied by thrombocytosis and leukocytosis [2]. - The presence of **JAK2V617F mutation** and **aquagenic pruritus** (hot flushes during bathing) are classic diagnostic features of PCV [2]. *PMF* - **Primary myelofibrosis (PMF)** typically presents with **pancytopenia** or **anemia with leukocytosis/thrombocytosis**, often with **splenomegaly** due to extramedullary hematopoiesis [1]. - While a **JAK2 mutation** can be present, the prominent feature of **extreme erythrocytosis** observed here is not typical for PMF [1]. *CML* - **Chronic myeloid leukemia (CML)** is defined by the presence of the **Philadelphia chromosome (BCR-ABL1 fusion gene)**, which is not mentioned in the patient's presentation. - CML primarily involves a dramatic increase in **granulocytes** and their precursors, with **anemia** being common, but not the marked erythrocytosis seen here. *Essential thrombocythemia* - **Essential thrombocythemia (ET)** is characterized primarily by a persistent and unexplained **elevated platelet count**. - Although it can be associated with a **JAK2 mutation**, the presence of an **exceptionally high hemoglobin level** and **leukocytosis** points away from a primary diagnosis of ET.

Q: A patient presents with elevated serum iron, low TIBC, and high ferritin. Which of the following conditions is most likely?

Hemochromatosis. ***Hemochromatosis*** - **Hereditary hemochromatosis** is characterized by excessive iron absorption, leading to **iron overload** in tissues and organs [1][3]. - The classic lab findings include **elevated serum iron**, **elevated ferritin** (reflecting increased iron stores), and **low total iron-binding capacity (TIBC)** due to increased iron saturation of transferrin [1]. *Lead poisoning* - **Lead poisoning** can cause **microcytic anemia** due to inhibition of heme synthesis enzymes, but it does not typically present with elevated serum iron or ferritin. - It's more commonly associated with **basophilic stippling** on peripheral blood smear and **elevated lead levels** in the blood. *Acute hepatitis* - **Acute hepatitis** can cause an elevation in **ferritin** as an acute phase reactant due to inflammation and liver cell damage [1]. - However, it typically does not present with simultaneously **elevated serum iron** and **low TIBC** in the same pattern as hemochromatosis, and iron metabolism disorders are not its primary feature. *Iron-deficiency anemia* - **Iron-deficiency anemia** is characterized by **low serum iron**, **low ferritin** (reflecting depleted iron stores), and **elevated TIBC** as the body tries to maximize iron absorption [2]. - These findings are directly opposite to the laboratory values presented in the question [2].

Q: All of the following are causes of normocytic anemia, EXCEPT:

Iron deficiency. ***Iron deficiency*** - **Iron deficiency anemia** is typically a **microcytic hypochromic anemia**, meaning red blood cells are smaller than normal with reduced hemoglobin [1], [2]. - While it can initially present with normocytic indices in very early stages or mixed deficiencies, it classically causes microcytosis as it progresses [2]. *Hemolysis* - **Hemolytic anemias** usually present as **normocytic anemias** because the red blood cells are destroyed prematurely without affecting their size. - The bone marrow compensates by releasing new but normally sized red blood cells. *Aplastic anemia* - **Aplastic anemia** is characterized by bone marrow failure, leading to a decrease in all blood cell lines, including red blood cells, which are typically **normocytic** in size. - The problem is insufficient production, not abnormal cell size. *Chronic kidney disease* - **Anemia of chronic kidney disease** is commonly a **normocytic, normochromic anemia** due to decreased erythropoietin production by the kidneys [1]. - Erythropoietin stimulates red blood cell production in the bone marrow, so its deficiency leads to fewer, but normally sized, red blood cells.

Q: Which of the following is a risk factor for deep vein thrombosis (DVT)?

Prolonged immobility. Detailed understanding of deep vein thrombosis (DVT) and its risk factors is essential for clinical practice. **Prolonged immobility**, such as during long flights, bed rest, or surgery, significantly increases the risk of DVT due to **venous stasis** [1]. **Reduced blood flow** allows clotting factors to accumulate, promoting the formation of a thrombus. *Hypertension*, while a risk factor for **atherosclerosis** and cardiovascular disease, is **not directly a primary risk factor for DVT**. Its effects on blood vessels are generally distinct from the venous stasis and hypercoagulability mechanisms primarily involved in DVT. *Chronic kidney disease* (CKD) can lead to a **prothrombotic state** due to various factors like endothelial dysfunction and inflammation; specific conditions like Nephrotic syndrome are noted risk factors [1]. However, CKD is not as direct or strong a risk factor for DVT as immobility, and many deaths are related to coexisting medical conditions [1]. *Hyperthyroidism* can cause a **hypercoagulable state**, increasing the risk of both arterial and venous thrombosis, but it is less commonly emphasized as a primary DVT risk factor compared to prolonged immobility.

Q: A patient presents with jaundice, dark urine, and high unconjugated bilirubin. Most likely cause?

Hemolysis. ***Hemolysis*** - **Jaundice** and **dark urine** with **high unconjugated bilirubin** are classic signs of hemolysis [1]. - **Unconjugated bilirubin** levels rise because the liver cannot process the increased load from red blood cell breakdown. *Biliary obstruction due to pancreatic cancer* - Would primarily cause a rise in **conjugated bilirubin** due to impaired bile flow, not unconjugated bilirubin [2]. - Patients often experience **pruritus** and **pale stools** in addition to jaundice. *Extrahepatic cholestasis* - This condition involves impaired bile flow outside the liver, leading to an increase in **conjugated bilirubin** [1]. - The presence of **unconjugated hyperbilirubinemia** argues against this diagnosis. *Viral hepatitis* - Typically causes an increase in both **conjugated and unconjugated bilirubin**, but especially **conjugated bilirubin**, as liver cells are damaged and cannot properly excrete bile [3]. - Often associated with elevated **liver enzymes (ALT, AST)**, which are not mentioned here [3].

Q: A patient presents with recurrent pneumonia and splenomegaly. Peripheral smear shows smudge cells. What is the likely diagnosis?

Chronic lymphocytic leukemia (CLL). ***Chronic lymphocytic leukemia (CLL)*** - The presence of **smudge cells** on a peripheral smear is a classic diagnostic feature of CLL, representing fragile lymphocytes that rupture during smear preparation. - Recurrent infections (like **pneumonia**) are common due to **hypogammaglobulinemia** and impaired immune function, and **splenomegaly** is a frequent physical finding [1]. *Acute myeloid leukemia* - Characterized by the presence of **myeloblasts** (immature myeloid cells) with **Auer rods** on the peripheral smear, which are not described here. - While it can cause anemia and thrombocytopenia, **splenomegaly** and **smudge cells** are not typical primary features. *Hodgkin's lymphoma* - This is a **lymphoma** (a solid tumor of lymphoid tissue) primarily diagnosed by **lymph node biopsy** showing **Reed-Sternberg cells** [2]. - It does not typically present with **smudge cells** on the peripheral smear or recurrent infections in the same manner as CLL. *Multiple myeloma* - This is a **plasma cell malignancy** characterized by **monoclonal protein (M-protein)** in serum or urine, **bone lesions**, and **renal dysfunction**. - The peripheral smear typically shows **rouleaux formation**, not smudge cells, and splenomegaly is not a common primary feature.

Q: A patient presents with pallor, glossitis, and jaundice. Labs show high MCV and hypersegmented neutrophils. What is the most likely cause?

Vitamin B12 deficiency. ***Vitamin B12 deficiency*** - The combination of **pallor**, **glossitis**, **jaundice**, **high MCV (macrocytic anemia)**, and **hypersegmented neutrophils** is classic for megaloblastic anemia due to Vitamin B12 deficiency [1]. - **Jaundice** occurs due to ineffective erythropoiesis leading to intramedullary hemolysis and release of unconjugated bilirubin. *Iron deficiency* - This typically causes **microcytic, hypochromic anemia (low MCV)**, not high MCV [2]. - While it can cause pallor and glossitis, it does not cause **hypersegmented neutrophils** or jaundice. *Folate deficiency* - Folate deficiency also causes **macrocytic anemia** and **hypersegmented neutrophils**, along with pallor and glossitis [1]. - However, **jaundice** is more characteristic of Vitamin B12 deficiency due to the more pronounced ineffective erythropoiesis and associated hemolysis. *Hemolysis* - Hemolysis can cause **jaundice** and **pallor** due to the accelerated destruction of red blood cells. - However, acute or isolated hemolysis does not typically lead to **high MCV** or **hypersegmented neutrophils**, which are hallmarks of megaloblastic anemias.

Q: A 45-year-old male presents with fatigue, pale skin, and jaundice. Labs reveal hemolysis and a positive direct Coombs test. What is the most likely diagnosis?

Autoimmune hemolytic anemia. ***Autoimmune hemolytic anemia*** - The combination of **hemolysis** (fatigue, pale skin, jaundice) and a **positive direct Coombs test** is highly indicative of autoimmune hemolytic anemia [1]. - A positive direct Coombs test identifies **antibodies or complement components** bound to the surface of red blood cells, leading to their destruction [1]. *Hereditary spherocytosis* - This condition is characterized by **spherocytes** on a peripheral blood smear and an **increased osmotic fragility test** [3]. - While it causes hemolysis, a **direct Coombs test** would typically be negative as it's an intrinsic red blood cell defect, not antibody-mediated [1]. *Sickle cell anemia* - Characterized by **sickle-shaped red blood cells** and is diagnosed with **hemoglobin electrophoresis**. - While it causes hemolytic anemia, the direct Coombs test is typically **negative**, and symptoms often include **vaso-occlusive crises**. *G6PD deficiency* - This is an **X-linked recessive enzymopathy** leading to bite cells and **Heinz bodies** during oxidative stress [2]. - The direct Coombs test would be **negative**, as the hemolysis is due to enzyme deficiency, not antibodies [2].

Q: Which of the following is used in the treatment of Hemophilia B?

Factor IX. ***Factor IX*** - Hemophilia B is a genetic bleeding disorder caused by a deficiency of **Factor IX** (FIX), a coagulation factor produced in the liver [2]. - Treatment involves intravenous administration of **recombinant Factor IX** or Factor IX concentrates to replace the missing clotting factor and achieve hemostasis [1]. *Cryoprecipitate* - Cryoprecipitate is a blood product rich in **Factor VIII**, von Willebrand factor, fibrinogen, and Factor XIII. - It is primarily used in the management of **Hemophilia A** (Factor VIII deficiency) or von Willebrand disease, not Hemophilia B. *Fresh frozen plasma* - Fresh frozen plasma (FFP) contains **all coagulation factors**, including Factor IX, but in lower concentrations compared to specific factor concentrates. - While FFP can be used in some clotting factor deficiencies, **Factor IX concentrate** is preferred for Hemophilia B due to a higher concentration of Factor IX with a smaller fluid volume, reducing the risk of fluid overload [1]. *Factor VIII* - **Factor VIII** is the deficient clotting factor in **Hemophilia A** [2]. - Administration of Factor VIII is the primary treatment for Hemophilia A, and it is not used in the management of Hemophilia B [1].

Q: In folate deficiency, which of the following statements is true?

Elevated homocysteine & normal methylmalonic acid. ***Elevated homocysteine & normal methylmalonic acid*** - In **folate deficiency**, the conversion of homocysteine to methionine is impaired, leading to **elevated homocysteine** levels. - Unlike vitamin B12 deficiency, **methylmalonic acid (MMA)** levels remain normal in folate deficiency because folate is not involved in its metabolism. *B12 supplementation is recommended along with folate* - Supplementation with B12 alongside folate is crucial when **macrocytic anemia** is diagnosed, as it can mask a coexisting **B12 deficiency**, potentially worsening neurological symptoms if only folate is given. - However, in confirmed isolated folate deficiency, B12 supplementation is not strictly necessary unless there is suspicion or diagnosis of co-existing B12 deficiency. *Purine and pyrimidine synthesis are affected* - While folate is essential for **DNA synthesis**, indirectly affecting purine and pyrimidine production, this statement is a consequence rather than the primary diagnostic or distinguishing feature of folate deficiency. - **Folate** acts as a coenzyme in transferring one-carbon units, vital for the synthesis of **thymidylate** (a pyrimidine base) and **purine precursors**. *Hemolytic anemia is not a feature* - **Hemolytic anemia** is not typically a feature of folate deficiency; instead, it is characterized by **macrocytic, megaloblastic anemia**. - Conditions like **glucose-6-phosphate dehydrogenase (G6PD) deficiency** or **autoimmune disorders** are commonly associated with hemolytic anemia.

Question 1

A 40-year-old male experiences hot flushes during bathing. Hb: 20 g/dL, Platelet: 89,000/mL, WBC: 30,000/mL. Investigation revealed JAK2 mutation. What is the most likely diagnosis?

Accepted Answer

PCV

Answer

PMF

Answer

CML

Answer

Essential thrombocythemia

Question 2

A patient presents with elevated serum iron, low TIBC, and high ferritin. Which of the following conditions is most likely?

Accepted Answer

Hemochromatosis

Answer

Lead poisoning

Answer

Acute hepatitis

Answer

Iron-deficiency anemia

Question 3

All of the following are causes of normocytic anemia, EXCEPT:

Accepted Answer

Iron deficiency

Answer

Hemolysis

Answer

Aplastic anemia

Answer

Chronic kidney disease

Question 4

Which of the following is a risk factor for deep vein thrombosis (DVT)?

Accepted Answer

Prolonged immobility

Answer

Hypertension

Answer

Chronic kidney disease

Answer

Hyperthyroidism

Question 5

A patient presents with jaundice, dark urine, and high unconjugated bilirubin. Most likely cause?

Accepted Answer

Hemolysis

Answer

Biliary obstruction due to pancreatic cancer

Answer

Extrahepatic cholestasis

Answer

Viral hepatitis

Question 6

A patient presents with recurrent pneumonia and splenomegaly. Peripheral smear shows smudge cells. What is the likely diagnosis?

Accepted Answer

Chronic lymphocytic leukemia (CLL)

Answer

Acute myeloid leukemia

Answer

Hodgkin's lymphoma

Answer

Multiple myeloma

Question 7

A patient presents with pallor, glossitis, and jaundice. Labs show high MCV and hypersegmented neutrophils. What is the most likely cause?

Accepted Answer

Vitamin B12 deficiency

Answer

Iron deficiency

Answer

Folate deficiency

Answer

Hemolysis

Question 8

A 45-year-old male presents with fatigue, pale skin, and jaundice. Labs reveal hemolysis and a positive direct Coombs test. What is the most likely diagnosis?

Accepted Answer

Autoimmune hemolytic anemia

Answer

Hereditary spherocytosis

Answer

Sickle cell anemia

Answer

G6PD deficiency

Question 9

Which of the following is used in the treatment of Hemophilia B?

Accepted Answer

Factor IX

Answer

Cryoprecipitate

Answer

Fresh frozen plasma

Answer

Factor VIII

Question 10

In folate deficiency, which of the following statements is true?

Accepted Answer

Elevated homocysteine & normal methylmalonic acid

Answer

B12 supplementation is recommended along with folate

Answer

Purine and pyrimidine synthesis are affected

Answer

Hemolytic anemia is not a feature

Hematology — MCQs

Hematology — MCQs

On this page

Practice by Chapter

Want unlimited practice?