Hematology Practice Questions

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 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.

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: What is the mean hemoglobin level in a 1-year-old child (in g/dl)?

12 g/dl. ***12 g/dl*** - The mean **hemoglobin level** in a 1-year-old child is typically around **12 g/dL**. - This value represents the average, though the normal range can vary slightly. *18.5 g/dl* - A hemoglobin level of **18.5 g/dL** would be considered very high and is outside the normal range for a 1-year-old. - Such a high level could indicate conditions like **polycythemia**. *16.5 g/dl* - A value of **16.5 g/dL** is higher than the typical mean for a 1-year-old, usually seen in newborns or early infancy. - Hemoglobin levels naturally decrease after birth before stabilizing. *14 g/dl* - While closer to the normal range, **14 g/dL** is still slightly above the mean for a 1-year-old child. - This level might be seen in older infants but is not the average for a child of one year.

Q: Common age of presentation of Henoch-Schönlein purpura is?

< 10 years. ***< 10 years*** - **Henoch-Schönlein purpura (HSP)** is predominantly a disease of **childhood**, with the majority of cases occurring in children under the age of 10. - The peak incidence is typically between **2 and 6 years of age**. *10-15 years* - While some cases of HSP can occur in this age group, it is **less common** than in younger children. - The incidence **decreases significantly** as age progresses beyond early childhood. *15-20 years* - HSP is **rare** in adolescents and young adults, though it can occur at any age. - When it does occur in older individuals, the disease presentation may be **more severe**. *20-30 years* - HSP is **uncommon** in this age range. - In adults, HSP is often associated with a higher risk of **renal involvement** and more chronic courses.

Q: According to the WHO criteria, anaemia in infants of 6 months of age is defined as haemoglobin less than:

110 gm/litre. ***110 gm/litre*** - According to the **World Health Organization (WHO)** criteria, anaemia in infants aged **6-59 months** is defined as a haemoglobin concentration of less than 110 g/L (11.0 g/dL). - This threshold is used for **population-based screening** and **public health interventions** to identify and manage anaemia in young children. *100 gm/litre* - A haemoglobin level of less than 100 g/L (10.0 g/dL) in infants typically indicates **moderate to severe anaemia**, but the WHO threshold for defining anaemia in this age group is higher. - This value would represent a more pronounced degree of anaemia, often warranting immediate investigation and treatment. *105 gm/litre* - While 105 g/L is close to the threshold, the **WHO standard** for defining anaemia in infants aged 6-59 months specifically sets the cut-off at 110 g/L. - Using 105 g/L might underestimate the prevalence of anaemia or delay interventions for children who are considered anaemic by the official criteria. *115 gm/litre* - A haemoglobin level of 115 g/L (11.5 g/dL) in an infant of 6 months is generally considered **within the normal range** and does not meet the WHO criterion for anaemia. - This value would typically indicate a healthy haemoglobin status, and therefore, would not prompt a diagnosis of anaemia.

Q: A 5-year-old male child presents with episodic anaemia and jaundice since birth. He is least likely to have which of the following conditions?

PNH. ***PNH*** - **Paroxysmal nocturnal hemoglobinuria (PNH)** is a rare, acquired clonal disorder that can present with anemia and jaundice; however, it is most commonly diagnosed in **adulthood** (median age 30-40 years). - While it can occur in children, presentation **since birth** is highly atypical for this acquired condition. *Hereditary spherocytosis* - This is an **inherited hemolytic anemia** characterized by defective red blood cell membrane proteins, leading to spherocytes that are prematurely destroyed. - It commonly presents with **episodic anemia and jaundice beginning in childhood**, often detected at birth or in early infancy. *Sickle cell anemia* - A **hereditary hemoglobinopathy** where red blood cells become sickle-shaped under low oxygen conditions, leading to chronic hemolysis, anemia, and vaso-occlusive crises. - Symptoms including **anemia and jaundice typically manifest in infancy** after the decline of fetal hemoglobin. *G–6–PD deficiency* - This is an **inherited enzyme deficiency** that makes red blood cells susceptible to oxidative damage, causing hemolytic anemia upon exposure to certain triggers (e.g., fava beans, certain drugs, infections). - Presentation with **episodic anemia and jaundice is common in childhood**, occurring when the child encounters oxidative stressors.

Q: Which of the following statements is true of hereditary spherocytosis?

About 50% of affected infants have moderately severe neonatal jaundice.. ***About 50% of affected infants have moderately severe neonatal jaundice*** - **Moderately severe neonatal jaundice** is indeed common in hereditary spherocytosis, affecting about 50% of infants. - The **increased breakdown of red blood cells** leads to elevated bilirubin levels, causing jaundice. *Infra vascular hemolysis is a common feature* - Hereditary spherocytosis mainly involves **extravascular hemolysis** rather than intravascular hemolysis [2][3]. - The destruction occurs in the **spleen** [2][4], which is not suitable for the classification of infra vascular hemolysis. *The disorder is usually due to autosomal recessive inheritance* - Hereditary spherocytosis is typically inherited in an **autosomal dominant** manner, not recessive. - Genetic mutations often affect proteins that maintain the **red blood cell membrane** [1], leading to spherocyte formation [4]. *Diagnosis can be made in neonatal period easily by examination of a blood film* - Diagnosis in the neonatal period often requires further testing beyond just a **blood film** [2], making it not straightforward. - Specific tests, such as the **osmotic fragility test** [2], are needed for definitive diagnosis rather than relying solely on blood films. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 640-641. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 597-598. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 639-640. [4] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 602-603.

Q: Which of the following is NOT a characteristic of Fanconi anemia?

Hematologic abnormalities in infancy. ***Hematologic abnormalities in infancy*** - Fanconi anemia typically does NOT present with hematologic abnormalities in infancy - this is why this option is correct for a "NOT" question. - The **median age of diagnosis** is between 6 and 8 years of age, when hematologic abnormalities become clinically apparent. - The characteristic **progressive bone marrow failure** with pancytopenia usually manifests in early-to-mid childhood, not in infancy. - While congenital physical abnormalities may be present at birth, the hematologic manifestations develop later. *Pancytopenia* - **Pancytopenia** is a hallmark of Fanconi anemia, as the disease causes progressive bone marrow failure. - This includes **anemia**, **leukopenia**, and **thrombocytopenia**, which typically develop in childhood and worsen over time. *Skeletal anomalies* - Various **skeletal abnormalities** are common in Fanconi anemia and present at birth. - These include malformations of the thumb (absent, hypoplastic, or supernumerary), radial aplasia, short stature, and abnormalities of the hips, spine, or kidneys. *Chromosome fragility* - **Chromosome fragility** is the diagnostic hallmark of Fanconi anemia. - Cells show increased chromosomal breakage, especially when exposed to DNA cross-linking agents (diagnostic test). - This chromosomal instability underlies the increased risk of myeloid malignancies and solid tumors.

Question 1

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 2

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 3

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

Question 4

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 5

What is the mean hemoglobin level in a 1-year-old child (in g/dl)?

Accepted Answer

12 g/dl

Answer

18.5 g/dl

Answer

16.5 g/dl

Answer

14 g/dl

Question 6

Common age of presentation of Henoch-Schönlein purpura is?

Accepted Answer

< 10 years

Answer

10-15 years

Answer

15-20 years

Answer

20-30 years

Question 7

According to the WHO criteria, anaemia in infants of 6 months of age is defined as haemoglobin less than:

Accepted Answer

110 gm/litre

Answer

115 gm/litre

Answer

100 gm/litre

Answer

105 gm/litre

Question 8

A 5-year-old male child presents with episodic anaemia and jaundice since birth. He is least likely to have which of the following conditions?

Accepted Answer

PNH

Answer

Hereditary spherocytosis

Answer

G–6–PD deficiency

Answer

Sickle cell anemia

Question 9

Which of the following statements is true of hereditary spherocytosis?

Accepted Answer

About 50% of affected infants have moderately severe neonatal jaundice.

Answer

The disorder is usually due to autosomal recessive inheritance.

Answer

Diagnosis can be made in the neonatal period easily by examination of a blood film.

Answer

Intravascular hemolysis is a common feature.

Question 10

Which of the following is NOT a characteristic of Fanconi anemia?

Accepted Answer

Hematologic abnormalities in infancy

Answer

Chromosome fragility

Answer

Pancytopenia

Answer

Skeletal anomalies

Hematology — MCQs

Hematology — MCQs

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