Hematology Practice Questions

Q: False about Shwachman-Diamond syndrome

Leucocytosis. ***Leucocytosis*** - **Leucocytosis** (an increase in white blood cells) is generally **not** a feature of Shwachman-Diamond syndrome (SDS); rather, patients typically experience **neutropenia** (low neutrophils) due to bone marrow dysfunction. - This persistent or intermittent neutropenia is a hallmark of the immune deficiency seen in SDS, making leucocytosis an incorrect finding. *Bone marrow dysfunction* - **Bone marrow dysfunction** is a defining characteristic of Shwachman-Diamond syndrome, leading to various **cytopenias**, most notably **neutropenia**. - This dysfunction can also manifest as anemia or thrombocytopenia, contributing to the overall morbidity of the disease. *Exocrine pancreatic insufficiency* - **Exocrine pancreatic insufficiency** is a primary clinical feature of Shwachman-Diamond syndrome, leading to **malabsorption** and **failure to thrive**. - This insufficiency is due to abnormal pancreatic development and is distinct from the more severe pancreatic involvement seen in cystic fibrosis. *Short stature* - **Short stature** is a common finding in children with Shwachman-Diamond syndrome, often resulting from a combination of **growth plate abnormalities** and **malnutrition** due to pancreatic insufficiency. - It is considered a key **skeletal manifestation** of the disease, along with metaphyseal chondrodysplasia.

Q: A boy after playing football complaining fatigue and abdominal pain. He also had a history of hand swelling in past. On ultrasonography, he has shrunken spleen. What is the likely diagnosis of this patient?

Sickle cell anemia. ### Sickle cell anemia - This patient's history of **hand swelling** (dactylitis), current **fatigue**, and **abdominal pain** are classic symptoms of sickle cell crises in **sickle cell anemia**. - The finding of a **shrunken spleen** on ultrasonography is consistent with **autosplenectomy**, a common complication of sickle cell disease due to repeated infarctions [1]. *Acute pancreatitis* - While acute pancreatitis can cause **severe abdominal pain**, it typically presents with elevated amylase/lipase, and does not explain the history of **hand swelling** or **shrunken spleen**. - There is no specific connection between playing football and developing acute pancreatitis in this context. *Iron deficiency anemia* - **Iron deficiency anemia** can cause **fatigue**, but it does not typically cause **abdominal pain**, **hand swelling**, or **autosplenectomy**. - A definitive diagnosis would require iron studies, which are not mentioned here. *Intermittent porphyria* - **Intermittent porphyria** can cause **abdominal pain** and neurological symptoms, but it does not manifest with **hand swelling** or **splenic atrophy**. - Its clinical presentation is distinctly different from the symptoms described.

Q: A 5-year-old boy with sickle cell disease presents with acute chest syndrome. His SpO2 is 88% on room air, with elevated WBC and LDH levels, and the chest X-ray shows new infiltrates. Assess and choose the best combination of treatments.

Oxygen, antibiotics, blood transfusion. ***Oxygen, antibiotics, blood transfusion*** - **Oxygen** is crucial for treating **hypoxemia** (SpO2 88%) in acute chest syndrome (ACS) to improve tissue oxygenation and reduce sickling. - **Broad-spectrum antibiotics** are essential due to the high likelihood of bacterial infection as a trigger for ACS, given the **elevated WBC** and risk of atypical organisms. Exchange transfusion (or simple transfusion) may be required in severe cases or to rapidly increase oxygen-carrying capacity. *Bronchodilators, corticosteroids, IV fluids* - **Bronchodilators** and **corticosteroids** are typically used for **asthma** or other obstructive airway diseases, which are not the primary pathology in ACS, although a component of bronchospasm can exist. - While **IV fluids** are important for hydration in sickle cell disease, this combination does not address the core issues of infection, sickling, and severe hypoxemia. *Exchange transfusion, anticoagulation* - **Exchange transfusion** is an important treatment for severe ACS, but it is often combined with **oxygen and antibiotics** as initial stabilizers, not used in isolation. - **Anticoagulation** is generally not indicated in the routine management of ACS unless there is a confirmed thrombotic event, as the pathophysiology is primarily vaso-occlusion and inflammation, not thrombosis requiring anticoagulation. *Hydroxyurea, IV fluids, pain management* - **Hydroxyurea** is a long-term preventative medication for sickle cell disease, not an acute treatment for ACS. - **IV fluids** and **pain management** are supportive measures, but they do not directly address the severe hypoxemia, infection, or the acute sickling crisis in the lungs, which require more aggressive intervention.

Q: A child with frequent nosebleeds and a family history of similar symptoms is being evaluated for a possible bleeding disorder. Which test is most critical for diagnosing a likely inherited condition?

Coagulation profile. ***Coagulation profile*** - A **coagulation profile**, including **prothrombin time (PT)**, **activated partial thromboplastin time (aPTT)**, and **fibrinogen levels**, is critical for evaluating the **extrinsic, intrinsic, and common pathways** of coagulation. - This helps identify potential deficiencies in **clotting factors**, which are often the cause of **inherited bleeding disorders** like **hemophilia** or **von Willebrand disease**. *Complete blood count* - A **CBC** provides information about **red blood cells**, **white blood cells**, and **platelet count**. - While it can reveal **anemia** from chronic bleeding or **thrombocytopenia**, it does not assess the **function of clotting factors** or the overall coagulation cascade. *Platelet function tests* - **Platelet function tests** (e.g., **platelet aggregation studies**) evaluate how well platelets adhere and aggregate to form a primary plug. - While important for disorders like **Glanzmann thrombasthenia** or **Bernard-Soulier syndrome**, a more general assessment of the **coagulation cascade** (coagulation profile) is typically the initial critical step in diagnosing the spectrum of inherited bleeding disorders when the type is unknown. *Genetic testing for clotting factor mutations* - **Genetic testing** is highly specific and confirms the exact **genetic mutation** responsible for an inherited bleeding disorder. - However, it is usually performed **after abnormalities are identified** in a **coagulation profile** or other initial screening tests, as it guides which specific genes to test for.

Q: A 5-year-old girl presents with pallor, fatigue, and a new heart murmur. Laboratory tests reveal hemolytic anemia and reticulocytosis. What is the most likely diagnosis?

Hereditary spherocytosis. ***Hereditary spherocytosis*** - **Pallor**, **fatigue**, and a new **heart murmur** suggesting anemia, coupled with laboratory findings of **hemolytic anemia** and **reticulocytosis**, are hallmark signs. - The presence of **spherocytes** on a peripheral blood smear and a positive **osmotic fragility test** would further confirm this diagnosis. *Iron deficiency anemia* - While it causes **pallor** and **fatigue**, it is characterized by **microcytic, hypochromic** red blood cells, not hemolytic anemia or reticulocytosis. - **Reticulocytosis** typically occurs only after iron supplementation as the bone marrow begins to produce new red blood cells. *Sickle cell disease* - Presents with significant **pain crises**, **vaso-occlusive events**, and organ damage, not just pallor and a murmur. - Characterized by **sickled red blood cells** on a peripheral smear, and a **hemoglobin electrophoresis** would confirm the presence of **HbS**. *G6PD deficiency* - An X-linked recessive disorder causing episodic **hemolytic anemia** when exposed to certain **oxidative stressors** like fava beans or certain medications. - While it causes hemolytic anemia and reticulocytosis, the episodic nature and trigger exposure are usually key distinguishing features, and there's no mention of a trigger here.

Q: What is the first-line treatment for a child under 2 years of age with iron deficiency anemia?

Oral iron supplementation. ***Oral iron supplementation*** - **Oral iron supplementation** is the **first-line treatment** for iron deficiency anemia in children under 2 years of age due to its effectiveness, safety, and ease of administration. - The goal is to replenish **iron stores** and restore adequate hemoglobin levels through consistent daily dosing. *Intravenous iron therapy* - **Intravenous iron therapy** is typically reserved for children who cannot tolerate oral iron, have severe malabsorption, or have significant ongoing blood loss. - It is not the initial treatment given the availability of effective and less invasive oral options. *Red blood cell transfusion* - **Red blood cell transfusions** are indicated for severe, symptomatic anemia, often with **hemodynamic instability** or critical organ compromise, not as a primary treatment for uncomplicated iron deficiency. - Transfusions carry risks such as **transfusion reactions** and **iron overload**, making them a last resort. *Dietary modification alone* - While **dietary modification** is crucial for preventing recurrence and supporting iron repletion, it is usually insufficient as the sole treatment for established iron deficiency anemia. - **Therapeutic doses of iron** are needed to correct existing deficiencies, which diet alone cannot provide quickly enough.

Q: A 4-year-old boy presents with recurrent infections and failure to thrive. Laboratory investigations reveal periodic episodes of severe neutropenia occurring at regular intervals. What is the most likely diagnosis?

Cyclic neutropenia. ***Cyclic neutropenia*** - This condition is characterized by **periodic oscillations in neutrophil counts**, leading to recurring episodes of severe neutropenia, which explains the recurrent infections. - The **failure to thrive** can be a consequence of chronic or recurrent infections and inflammation associated with the neutropenic phases. *Chronic granulomatous disease* - This disorder primarily involves a defect in the **phagocytes' ability to produce reactive oxygen species**, making them unable to kill certain bacteria and fungi, leading to recurrent severe infections. - While it causes recurrent infections, the hallmark is the formation of **granulomas**, and it doesn't typically present with severe neutropenia as the primary hematological abnormality. *Severe combined immunodeficiency* - This condition involves a profound defect in both **T and B lymphocyte function**, leading to severe and life-threatening infections from a broad range of pathogens. - While it causes severe infections and failure to thrive, the defining feature is **lymphopenia** and profound immune dysfunction, not recurrent (cyclic) neutropenia as the primary hematological defect. *Wiskott-Aldrich syndrome* - This is an **X-linked immunodeficiency** characterized by a triad of **recurrent infections, eczema, and thrombocytopenia** (low platelet count). - While it causes recurrent infections and can lead to failure to thrive, severe neutropenia is not a characteristic feature; rather, **thrombocytopenia** is the prominent hematological abnormality.

Q: A 7-year-old male presents with persistent epistaxis, easy bruising, and joint swelling. There is a family history of hemophilia. Laboratory results show an increased PTT, normal PT, and decreased factor VIII activity. Evaluate the treatment options considering the risk and benefit.

Factor VIII replacement therapy + DDAVP for mild cases. ***Factor VIII replacement therapy + DDAVP for mild cases*** - The patient's presentation with **persistent epistaxis**, **easy bruising**, **joint swelling**, increased **PTT**, normal **PT**, and decreased **factor VIII activity** is characteristic of **hemophilia A** [1]. - **Factor VIII replacement therapy** directly addresses the underlying deficiency, and **desmopressin (DDAVP)** can be used for mild cases as it stimulates the release of endogenous factor VIII and von Willebrand factor [1]. *Recombinant factor IX therapy + antifibrinolytics* - **Recombinant factor IX therapy** is indicated for **hemophilia B**, which involves a deficiency in factor IX, not factor VIII. - While **antifibrinolytics** (e.g., tranexamic acid, epsilon-aminocaproic acid) can be used as adjuncts to prevent clot breakdown, they do not correct the primary coagulation defect. *Fresh frozen plasma + supportive measures* - **Fresh frozen plasma (FFP)** contains all clotting factors, but it requires large volumes to achieve therapeutic levels of factor VIII, carries a risk of **transfusion-related acute lung injury (TRALI)** and viral transmission, and is less effective than targeted factor replacement [1]. - **Supportive measures** alone are insufficient to manage severe bleeding episodes in hemophilia. *Gene therapy trial with monitoring* - **Gene therapy** is an investigational treatment for hemophilia, mainly considered for severe cases and is currently not the first-line treatment. - While promising, it involves potential risks and long-term efficacy and safety are still under evaluation, making it less suitable for initial management compared to established therapies.

Question 1

False about Shwachman-Diamond syndrome

Accepted Answer

Leucocytosis

Answer

Bone marrow dysfunction

Answer

Exocrine pancreatic insufficiency

Answer

Short stature

Question 2

A boy after playing football complaining fatigue and abdominal pain. He also had a history of hand swelling in past. On ultrasonography, he has shrunken spleen. What is the likely diagnosis of this patient?

Accepted Answer

Sickle cell anemia

Answer

Acute pancreatitis

Answer

Iron deficiency anemia

Answer

Intermittent porphyria

Question 3

A 5-year-old boy with sickle cell disease presents with acute chest syndrome. His SpO2 is 88% on room air, with elevated WBC and LDH levels, and the chest X-ray shows new infiltrates. Assess and choose the best combination of treatments.

Accepted Answer

Oxygen, antibiotics, blood transfusion

Answer

Bronchodilators, corticosteroids, IV fluids

Answer

Exchange transfusion, anticoagulation

Answer

Hydroxyurea, IV fluids, pain management

Question 4

A 3-year-old presents with a history of pallor, irritability, and fatigue. Physical examination reveals mucosal pallor and a systolic murmur. Laboratory results show hemoglobin of 6.5 g/dL, mean corpuscular volume of 55 fL, and reticulocyte count of 1%. Analyze and determine the likely cause of these findings.

Accepted Answer

Iron deficiency anemia; treatment with iron supplements

Answer

β-thalassemia minor; regular monitoring

Answer

Sickle cell anemia; supportive care

Answer

G6PD deficiency; management of oxidative stress

Question 5

A child with frequent nosebleeds and a family history of similar symptoms is being evaluated for a possible bleeding disorder. Which test is most critical for diagnosing a likely inherited condition?

Accepted Answer

Coagulation profile

Answer

Complete blood count

Answer

Platelet function tests

Answer

Genetic testing for clotting factor mutations

Question 6

A 5-year-old girl presents with pallor, fatigue, and a new heart murmur. Laboratory tests reveal hemolytic anemia and reticulocytosis. What is the most likely diagnosis?

Accepted Answer

Hereditary spherocytosis

Answer

Iron deficiency anemia

Answer

Sickle cell disease

Answer

G6PD deficiency

Question 7

What is the first-line treatment for a child under 2 years of age with iron deficiency anemia?

Accepted Answer

Oral iron supplementation

Answer

Intravenous iron therapy

Answer

Red blood cell transfusion

Answer

Dietary modification alone

Question 8

A 12-year-old girl presents with fatigue, petechiae, and a nosebleed that won’t stop. Physical examination reveals pallor, splenomegaly, and ecchymoses. Laboratory results show hemoglobin of 7.5 g/dL, platelets of 20,000/µL, and white blood cells of 1,000/µL. What is the most likely diagnosis and initial management?

Accepted Answer

Acute leukemia - urgent hematology consultation and chemotherapy

Answer

Immune thrombocytopenic purpura (ITP) - corticosteroids and platelet transfusions

Answer

Aplastic anemia - supportive care with blood transfusions and platelet transfusions

Answer

Disseminated intravascular coagulation (DIC) - treat underlying cause and supportive coagulation management

Question 9

A 4-year-old boy presents with recurrent infections and failure to thrive. Laboratory investigations reveal periodic episodes of severe neutropenia occurring at regular intervals. What is the most likely diagnosis?

Accepted Answer

Cyclic neutropenia

Answer

Chronic granulomatous disease

Answer

Wiskott-Aldrich syndrome

Answer

Severe combined immunodeficiency

Question 10

A 7-year-old male presents with persistent epistaxis, easy bruising, and joint swelling. There is a family history of hemophilia. Laboratory results show an increased PTT, normal PT, and decreased factor VIII activity. Evaluate the treatment options considering the risk and benefit.

Accepted Answer

Factor VIII replacement therapy + DDAVP for mild cases

Answer

Recombinant factor IX therapy + antifibrinolytics

Answer

Fresh frozen plasma + supportive measures

Answer

Gene therapy trial with monitoring

Hematology — MCQs

Hematology — MCQs

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