Hematopathology Practice Questions

Q: A young boy presents with joint swelling after a fall. Lab investigations show normal PT and raised aPTT. What is the most likely diagnosis?

Hemophilia. ***Hemophilia***- The presentation of joint swelling after trauma (suggesting **hemarthrosis**) in a young boy is highly characteristic of hemophilia, which is an X-linked recessive disorder [1].- Hemophilia A (Factor VIII deficiency) or B (Factor IX deficiency) affects the **intrinsic coagulation pathway**, leading to an isolated prolongation of the **aPTT** while the PT remains normal. *Von Willebrand Disease*- VWD primarily causes defects in **platelet adhesion** and mild to moderate mucocutaneous bleeding (e.g., epistaxis, menorrhagia), not typically severe spontaneous hemarthrosis [1].- While severe VWD can lower Factor VIII and mildly prolong aPTT, it generally presents differently and often affects both males and females (autosomal pattern) [2].*Iron Deficiency Anaemia (IDA)*- IDA is a nutritional deficiency resulting in **microcytic, hypochromic anemia** and is not a primary bleeding disorder.- It does not involve defects in the coagulation cascade; therefore, PT and aPTT levels would be within the **normal reference range**.*Platelet function disorder*- These disorders (e.g., Glanzmann's or Bernard-Soulier) affect **primary hemostasis** (platelet plug formation), leading mainly to mucocutaneous bleeding [2].- In platelet disorders, the **PT and aPTT** are typically normal, as the coagulation cascade (secondary hemostasis) is intact.

Q: For testing blood clotting/coagulation parameters, blood is collected in which color-coded vacutainer tube?

Blue. ***Blue*** - The blue-coded vacutainer contains **Sodium Citrate** (3.2% or 3.8%), which is the required anticoagulant for performing coagulation studies, such as **PT** (Prothrombin Time) and **aPTT** (Activated Partial Thromboplastin Time) [1]. - **Sodium Citrate** works by binding and sequestering **calcium ions** (Factor IV), thereby reversibly preventing the coagulation cascade from proceeding until calcium is added back in the lab [1]. *Red* - The Red top tube typically contains **no anticoagulant** (or a clot activator) and is used to obtain **serum** after the blood clots naturally. - It is utilized for chemistry, serology, and blood bank tests, where the natural clotting process is required or coagulation factors are not needed. *Green* - The Green top tube contains **Heparin** (Lithium or Sodium Heparin), which inhibits clotting by augmenting the activity of **antithrombin III** [2]. - Although it provides plasma, it is unsuitable for routine coagulation assays because heparin itself significantly interferes with most coagulation factor tests. *Gray* - The Gray top tube contains **Potassium Oxalate** as an anticoagulant and **Sodium Fluoride** as a preservative. - It is specifically reserved for **glucose** and sometimes **lactate** measurements, as sodium fluoride inhibits enolase, thereby preventing glycolysis (glucose breakdown) by blood cells. **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] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 583-584.

Q: What defect is seen in Bernard Soulier syndrome?

Deficiency of GpIb receptors. ***Deficiency of GpIb receptors***- **Bernard-Soulier syndrome (BSS)** is an autosomal recessive disorder caused by defective or deficient **Glycoprotein Ib (GpIb)** [1]; this receptor is necessary for platelet adhesion to the subendothelium via **von Willebrand factor (vWF)** [1], [2]. - This defect results in dysfunctional primary **hemostasis**, causing bleeding and characteristic findings like **giant platelets** (macrothrombocytopenia) and mild to severely prolonged **bleeding time**. *Deficiency of GpIIb/IIIa receptor*- Deficiency or dysfunction of the **GpIIb/IIIa receptor** (fibrinogen receptor) causes **Glanzmann thrombasthenia** [1], which impairs platelet aggregation, not initial adhesion. - In Glanzmann thrombasthenia, platelets fail to aggregate in response to most agonists (like ADP or thrombin), but the initial adhesion mediated by GpIb is preserved [1]. *Deficiency of von Willebrand factor*- Deficiency of **von Willebrand factor (vWF)** causes **von Willebrand disease (vWD)**, the most common inherited bleeding disorder. - vWF is the ligand that links GpIb on the platelet to the exposed collagen in the vessel wall [2]; its deficiency is distinct from the receptor deficiency seen in BSS. *Deficiency of ADP receptors*- Deficiency of **ADP receptors** (specifically the P2Y12 receptor) impairs the signal transduction critical for sustained platelet aggregation and granule release [2]. - While affecting primary hemostasis, this congenital receptor deficiency is separate from BSS and is rarely reported; the most common interference with this receptor is therapeutic (**clopidogrel**). **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 668-669. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Hemodynamic Disorders, Thromboembolic Disease, and Shock, p. 128.

Q: Which gene mutation is most commonly associated with Burkitt's lymphoma?

C-myc. ***C-myc*** - Burkitt's lymphoma is characterized by the **t(8;14) translocation** in 80% of cases [1] - This translocation juxtaposes the **C-myc oncogene (chromosome 8)** with the **immunoglobulin heavy chain locus (chromosome 14)** [1] - Results in **constitutive overexpression of C-myc**, driving uncontrolled cell proliferation [1] - This is a **pathognomonic molecular feature** of Burkitt's lymphoma [1] - Variants include t(2;8) and t(8;22) involving immunoglobulin light chain loci [1] *p53* - Tumor suppressor gene involved in many cancers - Not the characteristic mutation defining Burkitt's lymphoma - May be involved in disease progression but not the hallmark feature *Rb* - Retinoblastoma gene, another tumor suppressor - Associated with retinoblastoma and osteosarcoma - Not characteristic of Burkitt's lymphoma *p21* - Cyclin-dependent kinase inhibitor (CDKN1A) - Involved in cell cycle regulation - Not the defining genetic alteration in Burkitt's lymphoma **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Neoplasia, pp. 324-325.

Q: A child diagnosed with von Willebrand disease requires an understanding of the role of von Willebrand factor (vWF). What does von Willebrand factor primarily combine with?

Glycoprotein Ib. ***Glycoprotein Ib***- vWF bridges exposed subendothelial **collagen** to the platelet surface receptor **Glycoprotein Ib (GPIb)**, which is crucial for initiating platelet **adhesion** during primary hemostasis [1], [2].- A deficiency in vWF (von Willebrand disease) or a defect in GPIb (Bernard-Soulier syndrome) impairs this initial binding step [1], [3].*Platelet factor 3*- Platelet factor 3 (PF3) refers to the **phospholipid surface** (cell membrane) of activated platelets, which serves as a necessary platform for the assembly of clotting factors (e.g., the **tenase** and **prothrombinase** complexes) in secondary hemostasis.- Although critical for clotting, PF3 does not represent the primary receptor that vWF binds to on the platelet surface.*ADP*- **Adenosine diphosphate (ADP)** is a chemical mediator released from platelet dense granules that acts to amplify platelet **activation** and promote **aggregation** (by activating P2Y12 and P2Y1 receptors) [1].- ADP is involved after initial adhesion and promotes platelet-platelet interactions (aggregation) via GP IIb/IIIa receptors, not the binding of vWF (adhesion) via GPIb [1], [3].*Prothrombin*- **Prothrombin (Factor II)** is a circulating zymogen that converts to thrombin (Factor IIa) in the common coagulation pathway, leading to the formation of **fibrin** (secondary hemostasis).- While vWF stabilizes **Factor VIII** (another coagulation factor), it does not primarily bind or activate Prothrombin; its main direct platelet interaction is with GPIb [2]. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Hemodynamic Disorders, Thromboembolic Disease, and Shock, p. 128. [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. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 668-669.

Q: Which blood is transfused in a patient with a Bombay blood group?

Bombay (Oh) blood. ***Bombay (Oh) blood*** - Patients with Bombay phenotype lack the **H antigen** due to deficiency of **fucosyltransferase enzyme** and can only receive Bombay (Oh) blood safely. - They produce potent **anti-H, anti-A, and anti-B antibodies**, making them compatible only with other Bombay donors who also lack the H antigen. *A* - Contains both **A antigen and H antigen**, causing severe hemolytic transfusion reaction due to anti-A and anti-H antibodies. - The presence of **H antigen** makes it completely incompatible with Bombay phenotype patients. *B* - Contains both **B antigen and H antigen**, leading to rapid hemolysis from anti-B and anti-H antibodies. - Like all standard ABO blood types, the **H antigen presence** makes transfusion dangerous and contraindicated. *AB* - Contains **A antigen, B antigen, and H antigen**, causing the most severe hemolytic reaction from all three antibodies. - This is the most incompatible blood type for Bombay patients due to multiple antigen incompatibilities. *O negative* - Though lacking A and B antigens, **O negative still contains the H antigen** present in all standard ABO blood groups. - Transfusing O negative to Bombay patients causes **severe acute hemolytic transfusion reaction** due to anti-H antibodies, making it unsafe despite being the universal donor for standard ABO types.

Q: What type of cell is shown in the image below?

Reed Sternberg cell. ***Reed Sternberg cell*** - This is a classic **Reed-Sternberg cell**, characterized by its large size, bilobed or multinucleated appearance, and prominent eosinophilic nucleoli, which create a pathognomonic "**owl-eye**" look [1], [2]. - These cells are the neoplastic hallmark of **Hodgkin lymphoma** and are crucial for its diagnosis [2]. *Faggot cell* - Faggot cells are malignant promyelocytes containing numerous **Auer rods** that are bundled together, resembling a bundle of sticks. - They are characteristically seen in **Acute Promyelocytic Leukemia (APL)**, a subtype of AML, and are not depicted in the image. *Mott cells* - Mott cells are plasma cells with cytoplasm packed with **Russell bodies**, which are eosinophilic globules of immunoglobulin, giving the cell a "grape-like" appearance. - They are found in conditions with chronic plasma cell stimulation or plasma cell neoplasms like **multiple myeloma**, but their morphology is distinct from the cell shown. *Sézary-Lutzner cells* - These are malignant T-lymphocytes characterized by a highly convoluted, **cerebriform (brain-like) nucleus**. - They are the hallmark cells of cutaneous T-cell lymphomas, such as **Mycosis Fungoides** and **Sézary syndrome**, and lack the "owl-eye" nucleoli seen in the image. **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. 614-618. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Diseases Of The Urinary And Male Genital Tracts, pp. 556-557.

Q: Which of the following is a feature of hemolytic anemia?

Decreased haptoglobin. ***Decreased haptoglobin***- Hemolytic anemia involves the rapid breakdown of red blood cells, which releases **free hemoglobin** into the blood plasma. [1]- **Haptoglobin** rapidly binds to this free hemoglobin and is subsequently cleared by the **reticuloendothelial system**, leading to significantly reduced or absent plasma haptoglobin levels. [1]*All of the options given below*- This option is incorrect because both **neutropenia** and **reticulocytopenia** are generally *not* features of uncomplicated hemolytic anemia.*Neutropenia*- **Neutropenia** (low neutrophil count) is not typically associated with hemolytic anemia, which primarily affects the **red cell line**.- It is usually seen in conditions involving bone marrow failure (e.g., **aplastic anemia**) or destruction of white cells, not premature RBC destruction.*Reticulocytopenia*- Uncomplicated hemolytic anemia stimulates the bone marrow to produce new RBCs, resulting in **reticulocytosis** (increased reticulocytes) as a compensatory mechanism. [1]- **Reticulocytopenia** (low reticulocytes) is seen when the bone marrow cannot respond, such as during an **aplastic crisis** (often due to **Parvovirus B19** infection) or when the anemia is caused by true bone marrow failure. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 638-640.

Question 1

A young boy presents with joint swelling after a fall. Lab investigations show normal PT and raised aPTT. What is the most likely diagnosis?

Accepted Answer

Hemophilia

Answer

Von Willebrand Disease

Answer

Platelet function disorder

Answer

Iron Deficiency Anaemia (IDA)

Question 2

For testing blood clotting/coagulation parameters, blood is collected in which color-coded vacutainer tube?

Accepted Answer

Blue

Answer

Gray

Answer

Red

Answer

Green

Question 3

What defect is seen in Bernard Soulier syndrome?

Accepted Answer

Deficiency of GpIb receptors

Answer

Deficiency of GpIIb/IIIa receptor

Answer

Deficiency of ADP receptors

Answer

Deficiency of von Willebrand factor

Question 4

Which gene mutation is most commonly associated with Burkitt's lymphoma?

Accepted Answer

C-myc

Answer

p53

Answer

Rb

Answer

p21

Question 5

A child diagnosed with von Willebrand disease requires an understanding of the role of von Willebrand factor (vWF). What does von Willebrand factor primarily combine with?

Accepted Answer

Glycoprotein Ib

Answer

Prothrombin

Answer

ADP

Answer

Platelet factor 3

Question 6

Which blood is transfused in a patient with a Bombay blood group?

Accepted Answer

Bombay (Oh) blood

Answer

A

Answer

O negative

Answer

AB

Answer

B

Question 7

What type of cell is shown in the image below?

Accepted Answer

Reed Sternberg cell

Answer

Mott cells

Answer

Faggot cell

Answer

Sézary-Lutzner cells

Question 8

The following picture shows a lymph node biopsy of a 30-year-old male with cervical lymphadenopathy. The diagnosis is

Accepted Answer

Hodgkin disease

Answer

Chronic lymphocytic leukemia (CLL)

Answer

Human papillomavirus (HPV)

Answer

Acute myeloid leukemia (AML)

Question 9

A 70-year-old male comes with complaints of hip pain. An X-ray of the hip shows lytic lesions and elevated serum calcium levels. Bone marrow plasma cells are 42%, and the cells seen are given in the image below. What is the most likely diagnosis? ![img-31.jpeg](img-31.jpeg)

Accepted Answer

Multiple myeloma

Answer

ALL

Answer

CML

Answer

CLL

Question 10

Which of the following is a feature of hemolytic anemia?

Accepted Answer

Decreased haptoglobin

Answer

Neutropenia

Answer

Reticulocytopenia

Answer

All of the above

Hematopathology — MCQs

Hematopathology — MCQs

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