Hematopathology Practice Questions

Q: What is the cause of the bleeding disorder in patients with Hemophilia A?

Deficiency of factor VIII in the coagulation cascade. ***Lack of reaction accelerator during activation of factor X in coagulation cascade*** - Hemophilia A is primarily due to a **deficiency of Factor VIII**, which acts as a cofactor for Factor X activation in the intrinsic pathway of the coagulation cascade [2]. - This lack of Factor VIII leads to **impaired fibrin clot formation**, resulting in prolonged bleeding [1]. *Neutralization of antithrombin III* - Antithrombin III is involved in the **inhibition of thrombin** and other serine proteases, not directly related to hemophilia A. - Neutralization of antithrombin III could lead to **increased clotting** rather than bleeding. *Release of Thromboxane A2* - Thromboxane A2 is primarily involved in **platelet aggregation and vasoconstriction**, which does not directly relate to the bleeding disorder of hemophilia A. - Its release is more relevant in conditions leading to **thrombotic events**, rather than bleeding disorders caused by factor deficiencies. *Lack of platelet aggregation* - Hemophilia A is specifically due to a deficiency in coagulation factors, not platelet dysfunction. - While platelet aggregation can affect hemostasis, it is not the underlying issue in hemophilia A, which causes prolonged bleeding times due to coagulation factor deficiencies.

Q: Fanconi's anemia is a:

Genetic anemia. ***Genetic anemia*** - Fanconi's anemia is a rare, **inherited disorder** characterized by bone marrow failure, physical abnormalities, and an increased risk of cancer [1]. - It results from mutations in genes involved in **DNA repair**, leading to chromosomal instability and defective hematopoietic stem cell function. *Anemia due to iron deficiency* - **Iron deficiency anemia** occurs when there is insufficient iron to produce adequate hemoglobin, often due to poor diet, malabsorption, or blood loss. - It is not associated with the genetic mutations or bone marrow failure seen in Fanconi's anemia. *Anemia due to autoimmune response* - **Autoimmune hemolytic anemia** involves the immune system mistakenly attacking and destroying red blood cells, which is a different mechanism from Fanconi's anemia. - Conditions like **Lupus** or **autoimmune lymphoproliferative syndrome** are examples of diseases causing autoimmune anemias. *Anemia due to red blood cell destruction* - Anemia due to red blood cell destruction, or **hemolytic anemia**, can be caused by various factors including genetic defects (e.g., sickle cell anemia), infections, or certain medications [2]. - While Fanconi's anemia can eventually lead to pancytopenia and affect red blood cells, its primary cause is **bone marrow failure** due to genetic defects in DNA repair, rather than direct hemolysis. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 595-596. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, p. 638.

Q: Which of the following is not considered a poor prognostic factor for Hodgkin's lymphoma?

Young age. ***Young age*** - Young age is generally associated with a **better prognosis** in Hodgkin's lymphoma, as this population often responds well to treatment [1][3]. - Patients are likely to have **fewer comorbid conditions**, which contributes to improved survival rates. *Extranodal metastasis* - Extranodal involvement is a **poor prognostic factor** indicating more advanced disease and increased treatment resistance [1]. - It is commonly associated with a **higher stage of disease**, leading to less favorable outcomes. *Lymphocyte depletion* - Lymphocyte depletion subtype of Hodgkin's lymphoma is linked to a **worse prognosis** due to its aggressive nature and poor response to therapies [2]. - It presents with fewer lymphocytes, indicating a more challenging disease course and **lower survival rates** [2]. *Involvement of stomach* - Gastric involvement in Hodgkin's lymphoma is also considered a **poor prognostic factor**, suggesting advanced disease. - It often correlates with **systemic symptoms** and may incur a higher risk of complications and treatment failures. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, pp. 616-618. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Diseases Of The Urinary And Male Genital Tracts, pp. 559-560. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, p. 618.

Q: Test used for factor VIII deficiency identification is:

APTT. ***APTT*** - Activated Partial Thromboplastin Time (APTT) is specifically used to identify deficiencies in the **intrinsic pathway**, including **factor VIII deficiency** [1]. - A prolonged APTT indicates a defect in this pathway, which is essential for diagnosing **hemophilia A**, linked to factor VIII [1][2]. *FDP* - Fibrin degradation products (FDP) are used to assess **fibrinolytic activity**, not specific for factor VIII deficiency. - While elevated in various conditions, they do not provide specific information about the intrinsic pathway or factor levels. *D dimer* - D-dimer is primarily used to rule out **thrombotic disorders** such as **deep vein thrombosis** or **pulmonary embolism**. - It does not assess **coagulation factors** or deficiencies like factor VIII, thus not appropriate for this diagnosis. *PT* - Prothrombin Time (PT) evaluates the **extrinsic pathway** of coagulation, primarily involving **factors I, II, V, VII, and X** [1]. - Factor VIII deficiency will not typically affect the PT, making it unsuitable for identifying issues related to the intrinsic pathway [1]. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Hemodynamic Disorders, Thromboembolic Disease, and Shock, pp. 128-130. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 669-670.

Q: Relative polycythemia can be caused by all of the following conditions, except:

High altitude. ***High altitude*** - High altitude results in **hypoxia**, which stimulates **erythropoietin** production and increases the **absolute number of red blood cells**, leading to **absolute polycythemia**, not relative polycythemia [1]. - In absolute polycythemia, the **red cell mass** is genuinely increased, whereas in relative polycythemia, it is the **plasma volume** that decreases, making the red cell count appear high [1]. *Dehydration* - Dehydration causes a **decrease in plasma volume**, concentrating the remaining blood components. - This effectively increases the **hematocrit** and **red blood cell count** relative to the reduced plasma, leading to **relative polycythemia**. *Gaisbock syndrome* - **Gaisbock syndrome**, also known as **stress erythrocytosis** or **pseudo-polycythemia**, is characterized by a **normal red cell mass** but a **reduced plasma volume**. - This reduction in plasma volume leads to an elevated **hematocrit**, falling under the definition of **relative polycythemia**. *Dengue haemorrhagic fever* - In severe dengue haemorrhagic fever, there is significant **plasma leakage**, which leads to a decrease in **intravascular plasma volume**. - This plasma leakage results in **hemoconcentration**, causing an apparent increase in red blood cell count and hematocrit, thus representing **relative polycythemia**.

Q: What is the most common beta thalassemia gene mutation worldwide?

IVS-1-110 (G→A) mutation. ***IVS-1-110 (G→A) mutation*** - This mutation at **intron 1 position 110** (Guanine to Adenine substitution) is considered the most common single gene defect causing **beta thalassemia** worldwide, particularly prevalent in the **Mediterranean region** (Greece, Cyprus, Turkey). [1] - It leads to an alteration in the **splicing of mRNA**, resulting in reduced or absent production of the **beta-globin chain**. [1] - **Note:** The most common mutation varies by geographic population; in the **Indian subcontinent**, IVS-1-5 (G→C) is most prevalent. *IVS-1-1 (G→T) mutation* - This mutation, involving a **Guanine to Thymine** substitution at **intron 1 position 1**, is a common cause of **beta thalassemia** in the **Indian subcontinent** and Mediterranean regions. [1] - It affects RNA splicing and is the second most common mutation in India after IVS-1-5 (G→C). *Codon 39 (C→T) mutation* - This mutation, a **nonsense mutation** where Cytosine is replaced by Thymine at **codon 39**, is prevalent in the **Mediterranean and Middle East** populations. [2] - It results in a **premature stop codon**, leading to a complete absence of functional beta-globin chain (β⁰ thalassemia). [2] *Large gene deletion* - While large deletions can occur and cause **beta thalassemia**, particularly certain forms of **β⁰ thalassemia**, they are generally less frequent compared to point mutations. [1] - Deletions more commonly cause **alpha thalassemia** rather than beta thalassemia, although some deletions do affect the beta-globin gene cluster. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 646-647. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 147-148.

Q: A 15-year-old girl presented with weakness for 2 months, accompanied by pallor and icterus on examination, with a palpable spleen. Laboratory examination findings include reticulocytosis, increased mean corpuscular hemoglobin concentration (MCHC), and a positive osmotic fragility test. The Coombs test is negative. What is the diagnosis?

Hereditary spherocytosis. ***Hereditary spherocytosis*** - The combination of **reticulocytosis**, **macrocytic anemia (increased MCV)**, and **positive osmotic fragility test** indicates spherocytes, which are typical in hereditary spherocytosis [1]. - The **negative Coombs test** further supports this diagnosis by ruling out autoimmune hemolytic anemia (AIHA) [2]. *AIHA* - AIHA is characterized by a **positive Coombs test** due to the presence of autoantibodies, which is not the case here [2]. - It typically presents with **normocytic anemia** rather than macrocytic changes like in hereditary spherocytosis. *G-6-PD deficiency anemia* - G-6-PD deficiency usually presents with **episodic hemolysis** and often shows **bite cells**, but the osmotic fragility would not be positive in this scenario. - Symptoms often occur after certain triggers (e.g., infections, drugs), differing from the chronic symptoms noted in this patient [3]. *Iron deficiency anemia* - Iron deficiency anemia typically shows **microcytic hypochromic cells**, with a **low MCV** and **MCHC**, which is inconsistent with the findings of increased MCV and reticulocytosis here. - It doesn't cause a positive osmotic fragility test. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 597-598. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 602-603. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 641-642. [4] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 640-641.

Q: Which test quantifies fetal hemoglobin in maternal blood using acid elution?

Kleihauer-Betke test. ***Kleihauer-Betke test*** - This test uses **acid elution** to quantify **fetal hemoglobin (HbF)**, which is resistant to acid, allowing it to remain in red cells while adult hemoglobin (HbA) elutes out. - It's primarily used to detect and quantify **fetomaternal hemorrhage**, guiding the dose of Rh immune globulin [2]. *Hemoglobin electrophoresis* - This method separates different **hemoglobin types** based on their electrical charge, useful for diagnosing hemoglobinopathies like sickle cell disease or thalassemia [1]. - While it can identify HbF, it is not the primary method for quantifying small amounts of fetal blood in maternal circulation after acid elution. *Complete Blood Count* - Provides information on red blood cell count, hemoglobin concentration, hematocrit, and other indices, but does not specifically quantify **fetal hemoglobin**. - It's a general screen for anemia or other blood disorders, not designed for differential hemoglobin analysis. *Peripheral Blood Smear* - Allows for microscopic examination of blood cell morphology, identifying abnormal red cell shapes or inclusions and estimating the proportions of different cell types. - It does not quantify specific types of hemoglobin, nor does it involve acid elution to differentiate fetal from adult red cells. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 649-650. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of Infancy and Childhood, pp. 469-470.

Q: All are true about polycythemia vera except one.

Increased erythropoietin. ***Increased erythropoietin*** - Polycythemia vera is characterized by **low erythropoietin levels** due to the autonomous proliferation of erythroid progenitor cells in the bone marrow [3]. - The disease is associated with a **JAK2 mutation**, which leads to erythrocytosis independent of erythropoietin stimulation [2,3]. *Increased LAP Score* - The LAP (leukocyte alkaline phosphatase) score is often **increased** in polycythemia vera due to increased leukocyte activity. - This test helps differentiate it from **essential thrombocythemia**, which typically has a normal or low LAP score. *Decreased erythropoietin* - Polycythemia vera generally exhibits **decreased erythropoietin levels** because of the negative feedback from increased red blood cell mass [3]. - Patients typically show a lack of normal response to hypoxia, which is observed in secondary causes of erythrocytosis [3]. *Increased ESR* - The erythrocyte sedimentation rate (ESR) can be **increased** in polycythemia vera due to elevated levels of multiple proteins in the blood. - This non-specific marker often reflects **inflammation** or other hematological conditions. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 614-615. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, pp. 626-627. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 663-664.

Question 1

What is the cause of the bleeding disorder in patients with Hemophilia A?

Accepted Answer

Deficiency of factor VIII in the coagulation cascade

Answer

Lack of platelet aggregation

Answer

Neutralization of antithrombin III

Answer

Release of Thromboxane A2

Question 2

Fanconi's anemia is a:

Accepted Answer

Genetic anemia

Answer

Anemia due to iron deficiency

Answer

Anemia due to autoimmune response

Answer

Anemia due to red blood cell destruction

Question 3

Which of the following is not considered a poor prognostic factor for Hodgkin's lymphoma?

Accepted Answer

Young age

Answer

Lymphocyte depletion

Answer

Extranodal metastasis

Answer

Involvement of stomach

Question 4

Test used for factor VIII deficiency identification is:

Accepted Answer

APTT

Answer

PT

Answer

D dimer

Answer

FDP

Question 5

Relative polycythemia can be caused by all of the following conditions, except:

Accepted Answer

High altitude

Answer

Gaisbock syndrome

Answer

Dengue haemorrhagic fever

Answer

Dehydration

Question 6

Which type of leukemia is associated with the Philadelphia chromosome?

Accepted Answer

Chronic Myeloid Leukemia (CML)

Answer

Acute Myeloid Leukemia (AML)

Answer

Acute Lymphoblastic Leukemia (ALL)

Answer

Chronic Lymphocytic Leukemia (CLL)

Question 7

What is the most common beta thalassemia gene mutation worldwide?

Accepted Answer

IVS-1-110 (G→A) mutation

Answer

Large gene deletion

Answer

IVS-1-1 (G→T) mutation

Answer

Codon 39 (C→T) mutation

Question 8

A 15-year-old girl presented with weakness for 2 months, accompanied by pallor and icterus on examination, with a palpable spleen. Laboratory examination findings include reticulocytosis, increased mean corpuscular hemoglobin concentration (MCHC), and a positive osmotic fragility test. The Coombs test is negative. What is the diagnosis?

Accepted Answer

Hereditary spherocytosis

Answer

Iron deficiency anemia

Answer

Autoimmune hemolytic anemia (AIHA)

Answer

G6PD deficiency anemia

Question 9

Which test quantifies fetal hemoglobin in maternal blood using acid elution?

Accepted Answer

Kleihauer-Betke test

Answer

Complete Blood Count

Answer

Hemoglobin electrophoresis

Answer

Peripheral Blood Smear

Question 10

All are true about polycythemia vera except one.

Accepted Answer

Increased erythropoietin

Answer

Decreased erythropoietin

Answer

Increased LAP Score

Answer

Increased blood viscosity

Hematopathology — MCQs

Hematopathology — MCQs

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