Hematology Practice Questions

Q: A 19-year-old man presents with recurrent knee bleeding during contact sports. He has no history of spontaneous bleeding, but his brother has similar issues. He is diagnosed with "mild" hemophilia A. Which of the following factor abnormalities is consistent with this diagnosis?

Decreased levels of functional factor VIII. **Explanation:** **Hemophilia A** is an X-linked recessive bleeding disorder caused by a deficiency or dysfunction of **Clotting Factor VIII** [1]. The severity of the disease is directly correlated with the plasma levels of functional Factor VIII. 1. **Why Option B is correct:** In Hemophilia A, the primary pathology is a **quantitative or qualitative deficiency of Factor VIII**. "Mild" hemophilia is defined by Factor VIII levels between **5% and 40%** of normal. These patients typically do not bleed spontaneously but experience prolonged bleeding after significant trauma, surgery, or contact sports, as seen in this clinical vignette [1]. 2. **Why other options are incorrect:** * **Option A:** While abnormal function can occur, the standard diagnostic hallmark is the measurement of decreased *levels* of functional factor. Furthermore, "decreased levels" is a more encompassing term for the laboratory diagnosis. * **Option C:** Decreased Factor IX level is the hallmark of **Hemophilia B** (Christmas Disease). While clinically indistinguishable from Hemophilia A, it involves a different factor. * **Option D:** Decreased von Willebrand factor (vWF) characterizes **von Willebrand Disease (vWD)** [4]. While vWF stabilizes Factor VIII, vWD usually presents with mucosal bleeding (epistaxis, menorrhagia) rather than hemarthrosis (joint bleeding) [5]. **High-Yield Clinical Pearls for NEET-PG:** * **Severity Classification:** * Severe: 5–40% factor activity (Bleeding with major trauma/surgery) [1]. * **Lab Findings:** Prolonged **aPTT**, normal PT, and normal bleeding time. * **Treatment:** Recombinant Factor VIII concentrate. For mild cases, **Desmopressin (DDAVP)** can be used to release stored Factor VIII from endothelial cells [2].

Q: A 40-year-old female patient presents with weakness and loss of appetite. She is a known case of non-Hodgkin's lymphoma, and lymph node examination shows involvement of Waldeyer's ring. What is the clinical stage for this patient?

Stage I. ### Explanation The clinical staging of Non-Hodgkin’s Lymphoma (NHL) follows the **Ann Arbor Staging System** (modified by the Cotswolds criteria) [1]. **Why Stage I is Correct:** In the Ann Arbor system, **Stage I** is defined as the involvement of a single lymph node region or a single extralymphatic organ/site. **Waldeyer’s ring** (comprising the tonsils, adenoids, and lingual tonsils) is considered a **single lymphoid site** [1]. Since the question specifies involvement of Waldeyer's ring without mentioning any other nodal or extranodal sites, it is classified as Stage I. **Analysis of Incorrect Options:** * **Stage II:** Requires involvement of two or more lymph node regions on the **same side** of the diaphragm. * **Stage III:** Requires involvement of lymph node regions on **both sides** of the diaphragm (e.g., cervical and inguinal nodes). * **Stage IV:** Represents diffuse or disseminated involvement of one or more extralymphatic organs (like bone marrow or liver), with or without associated lymph node involvement [1]. **High-Yield Clinical Pearls for NEET-PG:** * **Waldeyer’s Ring:** It is a common site for extranodal NHL (especially Diffuse Large B-Cell Lymphoma). For staging purposes, it is treated as a single nodal station [1]. * **"E" Suffix:** If a single extranodal site is involved (e.g., localized stomach involvement), it is Stage IE. * **"B" Symptoms:** Fever (>38°C), drenching night sweats, and weight loss (>10% in 6 months) [1]. Their presence adds a "B" suffix (e.g., Stage IB), while their absence adds "A". * **Spleen:** Involvement of the spleen is considered nodal involvement and is designated by the suffix "S" (Stage IIIS) [1].

Q: A 35-year-old woman presents with several days of increasing fatigue and shortness of breath on exertion. She was recently diagnosed with Mycoplasma pneumoniae. Physical examination reveals BP 113/67, HR 114 beats/min, and respiratory rate 20 breaths/min. She appears icteric and in mild respiratory distress. Her hemoglobin is 9.0 g/dL and MCV is 110. Which of the following is the best next diagnostic test?

Peripheral blood smear. **Explanation:** The clinical presentation is highly suggestive of **Cold Agglutinin Disease (CAD)**, a form of autoimmune hemolytic anemia (AIHA) triggered by **Mycoplasma pneumoniae**. The patient presents with acute anemia (Hb 9.0 g/dL), jaundice (icterus), and macrocytosis (MCV 110 fL). In CAD, IgM antibodies bind to RBCs at low temperatures, causing them to clump together [1]. **Why Peripheral Blood Smear is the best next step:** A peripheral blood smear is the most rapid and cost-effective initial test to confirm hemolysis and identify **RBC agglutination** (clumping). This clumping explains the falsely elevated MCV, as automated counters mistake RBC clusters for single large cells [1]. The smear will also show **spherocytes**, confirming an extravascular hemolytic process [2]. **Analysis of Incorrect Options:** * **A. Serum protein electrophoresis:** Used to detect monoclonal gammopathy (e.g., Multiple Myeloma). While CAD can be associated with Waldenström macroglobulinemia, it is not the immediate diagnostic step for acute hemolysis. * **B. Flow cytometry:** This is the gold standard for Paroxysmal Nocturnal Hemoglobinuria (PNH) (CD55/59 deficiency). PNH presents with intravascular hemolysis but is not typically triggered by Mycoplasma. * **C. Glucose-6-PD level:** G6PD deficiency causes hemolysis triggered by oxidative stress (drugs, fava beans) [3]. While it shows bite cells on a smear, it is not associated with Mycoplasma or high MCV due to agglutination. **NEET-PG High-Yield Pearls:** * **Cold AIHA (IgM):** Associated with *Mycoplasma pneumoniae* and Infectious Mononucleosis (EBV) [1]. * **Warm AIHA (IgG):** Associated with SLE, CLL, and drugs (α-methyldopa) [2]. * **Direct Coombs Test:** In CAD, it is positive for **C3b/complement** only (IgM dissociates at warmer temperatures) [1]. * **Management:** Avoid cold exposure; Rituximab is the preferred medical therapy if needed [1].

Q: Which of the following chromosomal abnormalities is associated with the worst prognosis in myelodysplastic syndromes?

Monosomy 7. **Explanation:** In Myelodysplastic Syndromes (MDS), cytogenetics is the single most important predictor of clinical outcome and the risk of transformation to Acute Myeloid Leukemia (AML). This is reflected in the **Revised International Prognostic Scoring System (IPSS-R)**. **Why Monosomy 7 is the correct answer:** Monosomy 7 (-7) or deletion of the long arm of chromosome 7 (7q-) involves the loss of critical tumor suppressor genes. In MDS, these abnormalities are categorized as **"Poor" to "Very Poor" prognostic markers**. They are associated with profound pancytopenia, a high rate of transformation to AML, and poor responsiveness to standard chemotherapy and hypomethylating agents. **Analysis of Incorrect Options:** * **A & B (t(8;21) and inv(16)):** These are "Core Binding Factor" leukemias [1]. While they are high-yield cytogenetic markers, they are characteristic of **de novo AML** (M2 and M4eo respectively), not MDS [1]. In the context of AML, these actually represent a **favorable prognosis**, the opposite of the question's premise. * **C (Normal Cytogenetics):** This is categorized as an **"Intermediate" prognosis** in MDS. While not as favorable as a solitary del(5q), it carries a significantly better survival rate than monosomy 7. **High-Yield Clinical Pearls for NEET-PG:** * **Best Prognosis in MDS:** Isolated **del(5q)** (often presents in elderly females with macrocytic anemia and thrombocytosis; responds well to Lenalidomide). * **Worst Prognosis in MDS:** Complex karyotype (≥3 abnormalities) or **Monosomy 7**. * **IPSS-R Categories:** Uses marrow blast percentage, cytogenetics, and depth of cytopenias to risk-stratify patients. * **Transformation:** Approximately 30% of MDS cases progress to AML; those with -7 progress much faster.

Q: Which genetic abnormality is associated with the worst prognosis in Chronic Lymphocytic Leukemia (CLL)?

17p Deletion. **Explanation:** The prognosis of Chronic Lymphocytic Leukemia (CLL) is heavily influenced by cytogenetic abnormalities identified via FISH (Fluorescence In Situ Hybridization). **1. Why 17p Deletion is the Correct Answer:** The **17p deletion** involves the loss of the **TP53 gene**, which is located on the short arm of chromosome 17. TP53 is a critical tumor suppressor gene responsible for DNA repair and apoptosis. Its absence leads to resistance against standard chemotherapy (like Fludarabine) and rapid disease progression. Patients with this mutation have the shortest median survival and are often candidates for targeted therapies like Ibrutinib (BTK inhibitors) or Venetoclax (BCL-2 inhibitors) rather than traditional chemo-immunotherapy. **2. Analysis of Incorrect Options:** * **13q Deletion (Option D):** This is the **most common** cytogenetic abnormality in CLL. When it occurs as an isolated finding, it is associated with the **best (most favorable) prognosis** and long survival [1]. * **11q Deletion (Option A):** Associated with extensive lymphadenopathy and an aggressive clinical course, but the prognosis is generally better than 17p deletion. It involves the loss of the ATM gene. * **12q Trisomy (Option B):** Associated with an intermediate prognosis. **High-Yield Clinical Pearls for NEET-PG:** * **Döhner’s Hierarchy of Prognosis (Best to Worst):** 13q deletion > Normal cytogenetics > Trisomy 12 > 11q deletion > 17p deletion. * **ZAP-70 and CD38:** High expression of these markers indicates a **poor prognosis**. * **IgVH Mutation Status:** *Unmutated* IgVH signifies a poor prognosis, whereas *mutated* IgVH signifies a favorable prognosis. * **Smudge Cells:** A classic peripheral smear finding in CLL (crushed lymphocytes). **Note on Survival:** Survival in CLL is heavily influenced by specific prognostic features and the ability to tolerate intensive therapy [1].

Q: A 35-year-old female evaluated for anemia has a dry marrow tap and a peripheral smear showing tear drop cells. What is the most likely diagnosis?

Primary Myelofibrosis. The clinical presentation of a **dry tap** (unsuccessful bone marrow aspiration) combined with **teardrop cells (dacrocytes)** on a peripheral smear is the classic hallmark of **Primary Myelofibrosis (PMF)** [1]. 1. **Why Primary Myelofibrosis is correct:** PMF is a myeloproliferative neoplasm characterized by extensive collagen deposition in the bone marrow (fibrosis). This fibrosis prevents the aspiration of marrow contents, resulting in a **"dry tap."** [1] As red blood cells are forced to squeeze through the fibrotic marrow and exit via the splenic sinusoids, they become physically distorted, taking on a **teardrop shape** [1]. This process is often accompanied by extramedullary hematopoiesis and a leukoerythroblastic blood picture [1]. 2. **Why other options are incorrect:** * **Acute Myeloid Leukemia (AML):** While AML can occasionally cause a dry tap due to hypercellularity (packed marrow), the peripheral smear typically shows **blasts** and Auer rods, not predominant teardrop cells. * **Hodgkin’S Disease:** This primarily involves lymph nodes. While it can involve the marrow in late stages, it is not the classic cause of the dacrocyte/dry tap triad. * **Polycythemia Vera (PV):** PV is characterized by an increased red cell mass (high Hb/Hct). While PV can progress to a "spent phase" (Post-PV Myelofibrosis) which mimics PMF, PMF is the primary diagnosis associated with this specific presentation in a 35-year-old female. **High-Yield Clinical Pearls for NEET-PG:** * **Dacrocytes (Teardrop cells):** Think "Myelofibrosis" or "Thalassemia" [1]. * **Dry Tap Differential:** Myelofibrosis, Hairy Cell Leukemia, Aplastic Anemia, and occasionally packed marrow in Leukemias. * **Genetic Marker:** ~50-60% of PMF cases are positive for the **JAK2 V617F** mutation [1]. * **Splenomegaly:** Massive splenomegaly is a common physical finding in PMF due to extramedullary hematopoiesis [1].

Q: Which of the following are complications of long-term hemophilia?

Joint deformity. **Explanation:** **Hemophilia** (A or B) is characterized by a deficiency in clotting factors VIII or IX, leading to a failure in the secondary hemostatic pathway. **Why Option A is Correct:** The hallmark of long-term, poorly controlled hemophilia is **Hemophilic Arthropathy**. Recurrent bleeding into the joint spaces (**hemarthrosis**), most commonly the knees, elbows, and ankles, leads to synovial hypertrophy and chronic inflammation [1]. Over time, the iron (hemosiderin) deposits from the blood damage the articular cartilage, resulting in joint space narrowing, subchondral cysts, and eventually permanent **joint deformity** and ankylosis [1]. **Analysis of Incorrect Options:** * **B. Transfusion-transmitted disease:** While historically a major complication (HIV, Hepatitis B/C) due to plasma-derived factors, the advent of recombinant factors and rigorous screening has significantly reduced this risk in modern practice [2]. It is considered a potential risk of therapy, not a direct pathological complication of the disease itself. * **C. Renal calculi:** There is no direct pathophysiological link between hemophilia and the formation of kidney stones. * **D. Severe iron deficiency anemia:** Hemophilic bleeds are typically internal (joints/muscles). Since the iron remains within the body (sequestered in tissues), it is recycled by macrophages [1]. Therefore, iron deficiency is rare unless there is significant external blood loss (e.g., GI bleed). **High-Yield Clinical Pearls for NEET-PG:** * **Target Joint:** Defined as a single joint that has had ≥3 spontaneous bleeds within a 6-month period. * **Earliest Sign:** The earliest radiographic sign of hemophilic arthropathy is soft tissue swelling; the most specific late sign is the widening of the intercondylar notch of the femur. * **Management:** Primary prophylaxis with factor replacement is the gold standard to prevent arthropathy [2]. Avoid NSAIDs and IM injections.

Question 1

A 19-year-old man presents with recurrent knee bleeding during contact sports. He has no history of spontaneous bleeding, but his brother has similar issues. He is diagnosed with "mild" hemophilia A. Which of the following factor abnormalities is consistent with this diagnosis?

Accepted Answer

Decreased levels of functional factor VIII

Answer

Abnormal factor VIII function

Answer

Decreased factor IX level

Answer

Decreased von Willebrand factor

Question 2

A 48-year-old woman presented with a two-month history of weakness. Examination revealed enlarged cervical lymph nodes and a spleen palpable 2 cm below the costal margin. Her hemoglobin was 10.5 g/dL, platelet count was 237x10^9/L, and total leukocyte count was 40x10^9/L, including 80% mature lymphoid cells with coarse clumped chromatin. Bone marrow revealed nodular lymphoid infiltrate. Peripheral blood lymphoid cells were positive for CD19, CD5, CD20, and negative for CD79B and FMC-7. Which one of the following statements is not true about this disease?

Accepted Answer

A t(11;14) translocation is present in most cases.

Answer

Trisomy 12 correlates with an aggressive clinical course.

Answer

Abnormalities of 13q14 are associated with long-term survival.

Answer

Cases with 11q22-23 deletions have excessive lymphadenopathy.

Question 3

A transplant patient with serologic evidence of previous Epstein-Barr virus infection was on high levels of immunosuppressive medications. The patient presents with generalized lymphadenopathy, fever, night sweats, weight loss, abdominal pain, and tonsillitis. The dosage of immunosuppressive drugs was decreased, leading to regression of the lymphadenopathy. Which of the following is the most likely diagnosis for this patient?

Accepted Answer

Post-transplant lymphoproliferative disorder

Answer

Burkitt lymphoma

Answer

Hodgkin lymphoma

Answer

Infectious mononucleosis

Question 4

A 70-year-old male has been experiencing intermittent epistaxis, fatigue, and bone pain for the past 4 months. Laboratory investigations show serum calcium of 14.2 mg/dL (Normal 8.9-10.1 mg/dL). How should the above condition be treated?

Accepted Answer

Chemotherapy

Answer

Radiotherapy

Answer

Antibiotics

Answer

Antifungal therapy

Question 5

A 40-year-old female patient presents with weakness and loss of appetite. She is a known case of non-Hodgkin's lymphoma, and lymph node examination shows involvement of Waldeyer's ring. What is the clinical stage for this patient?

Accepted Answer

Stage I

Answer

Stage II

Answer

Stage III

Answer

Stage IV

Question 6

A 35-year-old woman presents with several days of increasing fatigue and shortness of breath on exertion. She was recently diagnosed with Mycoplasma pneumoniae. Physical examination reveals BP 113/67, HR 114 beats/min, and respiratory rate 20 breaths/min. She appears icteric and in mild respiratory distress. Her hemoglobin is 9.0 g/dL and MCV is 110. Which of the following is the best next diagnostic test?

Accepted Answer

Peripheral blood smear

Answer

Serum protein electrophoresis

Answer

Flow cytometry

Answer

Glucose-6-PD level

Question 7

Which of the following chromosomal abnormalities is associated with the worst prognosis in myelodysplastic syndromes?

Accepted Answer

Monosomy 7

Answer

8/21 translocation

Answer

Inversion 16

Answer

Normal cytogenetics

Question 8

Which genetic abnormality is associated with the worst prognosis in Chronic Lymphocytic Leukemia (CLL)?

Accepted Answer

17p Deletion

Answer

11q Deletion

Answer

12q Trisomy

Answer

13q Deletion

Question 9

A 35-year-old female evaluated for anemia has a dry marrow tap and a peripheral smear showing tear drop cells. What is the most likely diagnosis?

Accepted Answer

Primary Myelofibrosis

Answer

Acute myeloid leukemia

Answer

Hodgkin's Disease

Answer

Polycythemia vera

Question 10

Which of the following are complications of long-term hemophilia?

Accepted Answer

Joint deformity

Answer

Transfusion transmitted disease

Answer

Renal calculi

Answer

Severe iron deficiency anemia

Hematology — MCQs

Hematology — MCQs

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