Hematology Practice Questions

Q: A 60-year-old man presented with fatigue, weight loss, and heaviness in the left hypochondrium for 6 months. The hemogram showed Hb 10 g/dL, TLC 5 lakhs/mm³, platelet count 4 lakhs/mm³, DLC: neutrophils 55%, lymphocytes 4%, monocytes 2%, basophils 6%, metamyelocytes 10%, myelocytes 18%, promyelocytes 2%, and blasts 3%. What is the most likely cytogenetic abnormality in this case?

t(9;22). ### Explanation **Diagnosis: Chronic Myeloid Leukemia (CML)** The clinical presentation of a 60-year-old male with massive splenomegaly (heaviness in the left hypochondrium) and a massive leukocytosis (TLC 5 lakhs/mm³) is classic for CML [2]. The differential leukocyte count (DLC) shows a **"myelocyte bulge"** (predominance of myelocytes and metamyelocytes) and **basophilia (6%)**, which are hallmark features of CML in the chronic phase. **1. Why t(9;22) is correct:** The cytogenetic hallmark of CML is the **Philadelphia (Ph) chromosome**, resulting from a reciprocal translocation between chromosomes 9 and 22, **t(9;22)(q34;q11)** [2]. This creates the *BCR-ABL1* fusion gene, which encodes a constitutive tyrosine kinase responsible for uncontrolled myeloid proliferation [2]. **2. Why the other options are incorrect:** * **t(1;21):** This is not a standard translocation associated with common leukemias. * **t(15;17):** This is the characteristic translocation for **Acute Promyelocytic Leukemia (APL - AML M3)**, involving the *PML-RARA* fusion [1]. Patients typically present with DIC and a high percentage of promyelocytes with Auer rods. * **Trisomy 21:** Associated with Down Syndrome, which carries an increased risk of **Acute Megakaryoblastic Leukemia (AML M7)** and Transient Myeloproliferative Disorder (TMD) in neonates. **Clinical Pearls for NEET-PG:** * **LAP Score:** Leukocyte Alkaline Phosphatase (LAP) score is characteristically **decreased** in CML (helps differentiate it from a Leukemoid reaction where it is increased). * **Basophilia:** The presence of increased basophils in a peripheral smear is a strong clue for a Myeloproliferative Neoplasm (MPN), specifically CML. * **Treatment of Choice:** Tyrosine Kinase Inhibitors (TKIs) like **Imatinib** [2]. * **Blast Crisis:** Defined as ≥20% blasts in blood or bone marrow.

Q: A 19-year-old man presents with a swollen and painful knee after an injury while playing football. He has no history of bleeding disorders. Arthrocentesis of the knee revealed hemarthrosis. Investigations show: Platelets 170,000/mL, PT normal, PTT elevated, bleeding time normal, factor VIII normal, factor IX reduced, and ristocetin cofactor assay normal. What is the most likely diagnosis for this patient's bleeding disorder?

hemophilia B. The clinical presentation of a young male with **hemarthrosis** (bleeding into joints) following minor trauma is a classic hallmark of a coagulation factor deficiency [1]. **1. Why Hemophilia B is correct:** The laboratory profile provided is the key to the diagnosis: * **Elevated PTT (aPTT):** Indicates a defect in the intrinsic pathway (Factors VIII, IX, XI, or XII). * **Normal PT and Bleeding Time:** Rules out extrinsic pathway defects and platelet/vessel wall disorders [1]. * **Factor IX reduced:** This is the definitive finding. Hemophilia B (Christmas Disease) is an X-linked recessive disorder caused by a deficiency of Factor IX [1]. **2. Why other options are incorrect:** * **von Willebrand Disease (vWD):** While it can cause an elevated aPTT (due to low Factor VIII), it typically presents with mucosal bleeding (epistaxis, menorrhagia) and an **abnormal Ristocetin Cofactor Assay**. Hemarthrosis is rare except in Type 3 vWD [2]. * **Hemophilia A:** This also presents with hemarthrosis and elevated aPTT, but it is caused by a deficiency of **Factor VIII**. The question explicitly states Factor VIII levels are normal [1]. * **Thrombotic Thrombocytopenic Purpura (TTP):** This is a microangiopathic hemolytic anemia characterized by the pentad of fever, anemia, thrombocytopenia, renal failure, and neurological symptoms. It would show a **low platelet count**, which is normal in this patient. **Clinical Pearls for NEET-PG:** * **Inheritance:** Both Hemophilia A and B are **X-linked recessive** (affecting males) [1]. * **Mixing Study:** If aPTT is prolonged, a mixing study is done. If it corrects, it indicates a factor deficiency; if not, it suggests an inhibitor. * **Treatment:** Hemophilia B is treated with recombinant Factor IX concentrate. Fresh Frozen Plasma (FFP) is used if specific concentrates are unavailable.

Q: A 26-year-old woman presents with severe menorrhagia. She reports that both her father and sister have a bleeding disorder. What is the most likely diagnosis, given an autosomal-dominant mode of inheritance for the hemostatic disorder?

von Willebrand's disease. The patient presents with **menorrhagia** (mucocutaneous bleeding) and a strong family history involving both genders (father and sister), which points toward an **Autosomal Dominant (AD)** inheritance pattern. [1] **1. Why von Willebrand’s Disease (vWD) is correct:** vWD is the most common inherited bleeding disorder. It typically presents with mucocutaneous bleeding (epistaxis, menorrhagia, gingival bleeding). [1] Most types (specifically Type 1 and Type 2A, 2B, and 2M) follow an **Autosomal Dominant** inheritance. Since it affects both males and females equally, it perfectly matches the clinical scenario. **2. Why the other options are incorrect:** * **Factor VIII (Hemophilia A) and Factor IX (Hemophilia B) deficiency:** These are **X-linked recessive** disorders. They primarily affect males, while females are typically asymptomatic carriers. They usually present with deep-seated bleeds (hemarthrosis/muscle hematomas) rather than mucosal bleeding. [1] * **Factor X deficiency:** This is a rare coagulation disorder that follows an **Autosomal Recessive** inheritance pattern, making it less likely in a multi-generational family history unless consanguinity is present. **Clinical Pearls for NEET-PG:** * **Screening Tests in vWD:** Prolonged Bleeding Time (BT) and often a prolonged Activated Partial Thromboplastin Time (aPTT) (due to low Factor VIII levels, as vWF stabilizes Factor VIII). [2] Platelet count is usually normal (except in Type 2B). * **Confirmatory Test:** Ristocetin Cofactor Assay (measures vWF activity). [2] * **Treatment of Choice:** Desmopressin (DDAVP) for Type 1; Factor VIII concentrates containing vWF for severe cases. [2] * **Inheritance Rule:** If a bleeding disorder affects both father and daughter, think AD (vWD); if it skips females and affects maternal uncles/nephews, think X-linked (Hemophilia).

Q: A 70-year-old male presented with anorexia, weakness, and paresthesia. Investigations revealed a hemoglobin of 5.8 g/dL, a peripheral smear showing macrocytes and neutrophils with hypersegmented nuclei, and sluggish tendon reflexes. Endoscopy revealed atrophic gastritis. Deficiency of which of the following factors can lead to such a clinical situation?

Vitamin B12. The clinical presentation of **megaloblastic anemia** (macrocytes and hypersegmented neutrophils) combined with **neurological symptoms** (paresthesia and sluggish reflexes) is a classic hallmark of **Vitamin B12 deficiency** [1]. **Why Vitamin B12 is correct:** Vitamin B12 is essential for DNA synthesis and the maintenance of myelin in the nervous system. The patient’s **atrophic gastritis** leads to a loss of gastric parietal cells, which are responsible for secreting **Intrinsic Factor (IF)**. Without IF, Vitamin B12 cannot be absorbed in the terminal ileum (Pernicious Anemia) [1]. The lack of B12 impairs DNA synthesis, causing ineffective erythropoiesis (megaloblastic changes), and leads to the accumulation of methylmalonic acid, which causes subacute combined degeneration of the spinal cord, explaining the neurological deficits. **Why other options are incorrect:** * **Folic acid:** While folate deficiency causes identical megaloblastic changes on a peripheral smear, it **does not** cause neurological symptoms or sluggish reflexes. * **Pyridoxine (B6):** Deficiency typically leads to microcytic, hypochromic anemia (sideroblastic anemia) and peripheral neuropathy, but not macrocytosis or atrophic gastritis associations [2]. * **Riboflavin (B2):** Deficiency presents with cheilosis, glossitis, and corneal vascularization, not megaloblastic anemia. **High-Yield Clinical Pearls for NEET-PG:** * **Neurological Triad:** Loss of vibration/position sense, upper motor neuron signs (spasticity), and lower motor neuron signs (absent reflexes). * **Diagnostic Marker:** Elevated **Methylmalonic Acid (MMA)** is specific for B12 deficiency, whereas Homocysteine is elevated in both B12 and Folate deficiency. * **Schilling Test:** Historically used to determine the cause of B12 malabsorption (now largely replaced by antibody testing for IF).

Q: A patient over 70 years of age presents with generalized lymphadenopathy. The WBC count is 20,000/mm³ and the blood film shows more than 70% mature-looking lymphocytes. What is the next investigation that should be performed?

Peripheral immunophenotyping. ### Explanation **1. Why Peripheral Immunophenotyping is Correct:** The clinical presentation—an elderly patient (>70 years) with generalized lymphadenopathy and absolute lymphocytosis (mature-looking lymphocytes)—is highly suggestive of **Chronic Lymphocytic Leukemia (CLL)**. According to the International Workshop on CLL (iwCLL) guidelines, the diagnosis is established by demonstrating a persistent absolute lymphocyte count ≥5,000/µL and a characteristic immunophenotype [1]. **Peripheral blood flow cytometry (immunophenotyping)** is the "gold standard" and the most important next step to confirm the diagnosis by identifying the pathognomonic "CLL signature": CD5+, CD19+, CD20+ (weak), and CD23+ B-cells with surface immunoglobulin restriction. **2. Why Other Options are Incorrect:** * **Lymph node biopsy (A):** While it would show Small Lymphocytic Lymphoma (SLL), it is invasive and unnecessary if the diagnosis can be made via peripheral blood [2]. It is usually reserved for cases where Richter’s transformation is suspected. * **Bone marrow aspiration (C):** Bone marrow examination is **not required** for the diagnosis of CLL. It is typically performed only before starting treatment or to evaluate unexplained cytopenias. * **Peripheral blood cytogenetics (D):** While FISH (Fluorescence In Situ Hybridization) for deletions like 13q, 11q, or 17p is vital for **prognostication**, it is performed *after* the diagnosis is confirmed via immunophenotyping. **3. NEET-PG High-Yield Pearls:** * **Smudge Cells:** Characteristically seen on peripheral smears in CLL (due to fragile lymphocytes). * **Rai Staging:** Based on lymphocytosis, lymphadenopathy, organomegaly, and cytopenias (Anemia/Thrombocytopenia) [1]. * **Most common leukemia in the elderly:** CLL. * **Marker of choice:** CD5 (a T-cell marker abnormally expressed on B-cells in CLL).

Q: A 20-year-old female presents to the medical OPD with severe pain and redness over the dorsum of her foot. She has a past history of severe abdominal pain episodes. Peripheral smear shows anemia with the presence of poikilocytes. What is the likely diagnosis?

Sickle cell anemia. The clinical presentation is classic for **Sickle Cell Anemia (SCA)**. The "severe pain and redness over the dorsum of the foot" in a young patient describes **Hand-Foot Syndrome (Dactylitis)**, which is often the first manifestation of vaso-occlusive crises. The history of "severe abdominal pain" suggests prior mesenteric vaso-occlusive crises or splenic infarction [1]. Peripheral smear findings of anemia and **poikilocytes** (specifically sickle cells and target cells) further confirm the diagnosis [1]. **Why the other options are incorrect:** * **Hemoglobin C disease:** While it presents with target cells and mild hemolytic anemia, it rarely causes severe vaso-occlusive pain or dactylitis. * **Thalassemia minor:** Usually asymptomatic or presents with mild microcytic hypochromic anemia. It does not cause acute pain crises or dactylitis. * **G6PD deficiency:** Presents as episodic hemolysis triggered by oxidative stress (drugs, infections, fava beans) [2]. It typically manifests with jaundice and dark urine, not chronic vaso-occlusive pain. **NEET-PG High-Yield Pearls:** * **Molecular Basis:** Substitution of Glutamic acid by Valine at the 6th position of the Beta-globin chain [1]. * **Dactylitis:** The earliest sign of SCA in infants/children due to infarcts in small bones. * **Diagnosis:** **Hb Electrophoresis** is the gold standard (shows HbS); Solubility test/Sickling test are screening tools [1]. * **Radiology:** "Crew-cut" appearance on skull X-ray and "H-shaped" vertebrae (Codfish vertebrae) due to endplate infarction. * **Management:** Hydroxyurea is used to increase **HbF** levels, which inhibits sickling [1].

Q: Which of the following does not cause megaloblastic anemia?

Chloroquine. Megaloblastic anemia is characterized by impaired DNA synthesis, leading to a maturation delay between the nucleus and cytoplasm (nuclear-cytoplasmic asynchrony) [1]. This is most commonly caused by deficiencies or interference with the metabolism of Vitamin B12 and Folic acid [3]. **Why Chloroquine is the correct answer:** Chloroquine is an antimalarial and amebicidal drug. It does not interfere with DNA synthesis or folate/B12 metabolism. Therefore, it is **not** a cause of megaloblastic anemia. **Analysis of incorrect options:** * **Phenytoin:** This antiepileptic drug causes megaloblastic anemia by inhibiting the intestinal enzyme (folate conjugase), thereby reducing the absorption of dietary folates. * **Sulfasalazine:** Used in inflammatory bowel disease, it acts as a competitive inhibitor of the enzyme dihydrofolate reductase (DHFR) [2] and also impairs folate absorption. * **Alcohol:** Alcoholism is a common cause of macrocytosis. It has a direct toxic effect on the bone marrow and interferes with folate metabolism and enterohepatic circulation of folate. **High-Yield Clinical Pearls for NEET-PG:** * **Drug-induced Megaloblastic Anemia:** * **DHFR Inhibitors:** Methotrexate, Pyrimethamine, Trimethoprim [2]. * **DNA Synthesis Inhibitors:** 6-Mercaptopurine, 5-Fluorouracil, Hydroxyurea, Zidovudine (AZT). * **Absorption Interference:** Metformin, Oral Contraceptive Pills (OCPs), Phenobarbital. * **Key Finding:** The presence of **hypersegmented neutrophils** (>5 lobes) on a peripheral smear is the earliest sign of megaloblastic changes. * **Differentiation:** Unlike Vitamin B12 deficiency, Folate deficiency does **not** cause neurological symptoms (like Subacute Combined Degeneration of the spinal cord).

Q: All of the following are true about Chronic Lymphocytic Leukemia, except?

T lymphocyte CLL is more common. Explanation: **Why Option D is the Correct Answer (The Exception):** Chronic Lymphocytic Leukemia (CLL) is almost exclusively a **B-cell malignancy** (over 95% of cases). The malignant cells express B-cell markers such as CD19, CD20, and CD23, along with the characteristic aberrant expression of **CD5** (a T-cell marker). True "T-cell CLL" is an outdated term; most such cases are now classified as T-cell Prolymphocytic Leukemia (T-PLL), which is rare and clinically distinct [1]. Therefore, the statement that T-lymphocyte CLL is more common is false. **Analysis of Incorrect Options:** * **Option A:** CLL is often asymptomatic in its early stages. It is frequently **diagnosed incidentally** on routine complete blood counts (CBC) performed for other reasons, showing an isolated increase in absolute lymphocyte count [1]. * **Option B:** **Leukocytosis** (specifically lymphocytosis) is the hallmark of CLL. The diagnosis requires a sustained absolute lymphocyte count of **>5,000/µL** in the peripheral blood. * **Option C:** While CLL is an indolent "chronic" disease, it can undergo a sudden transformation into an aggressive high-grade lymphoma (usually Diffuse Large B-cell Lymphoma), a phenomenon known as **Richter’s Transformation** [1]. This presents clinically like an acute, rapidly progressing malignancy. **NEET-PG High-Yield Pearls:** * **Smudge Cells:** Characteristically seen on peripheral smears due to the fragility of the neoplastic lymphocytes. * **Immunophenotype:** CD5+, CD19+, CD20+ (weak), CD23+, and surface Ig (weak). * **Staging:** Uses the **Rai** (USA) or **Binet** (Europe) systems, primarily based on lymphadenopathy, organomegaly, and cytopenias [1]. * **Hypogammaglobulinemia:** Common in late stages, leading to recurrent bacterial infections (most common cause of death) [1].

Question 1

A 60-year-old man presented with fatigue, weight loss, and heaviness in the left hypochondrium for 6 months. The hemogram showed Hb 10 g/dL, TLC 5 lakhs/mm³, platelet count 4 lakhs/mm³, DLC: neutrophils 55%, lymphocytes 4%, monocytes 2%, basophils 6%, metamyelocytes 10%, myelocytes 18%, promyelocytes 2%, and blasts 3%. What is the most likely cytogenetic abnormality in this case?

Accepted Answer

t(9;22)

Answer

t(1;21)

Answer

t(15;17)

Answer

Trisomy 21

Question 2

A 19-year-old man presents with a swollen and painful knee after an injury while playing football. He has no history of bleeding disorders. Arthrocentesis of the knee revealed hemarthrosis. Investigations show: Platelets 170,000/mL, PT normal, PTT elevated, bleeding time normal, factor VIII normal, factor IX reduced, and ristocetin cofactor assay normal. What is the most likely diagnosis for this patient's bleeding disorder?

Accepted Answer

hemophilia B

Answer

von Willebrand disease

Answer

hemophilia A

Answer

thrombotic thrombocytopenic purpura (TTP)

Question 3

A 26-year-old woman presents with severe menorrhagia. She reports that both her father and sister have a bleeding disorder. What is the most likely diagnosis, given an autosomal-dominant mode of inheritance for the hemostatic disorder?

Accepted Answer

von Willebrand's disease

Answer

Factor X deficiency

Answer

Factor VIII deficiency (hemophilia A)

Answer

Factor IX deficiency (hemophilia B)

Question 4

Which of the following is the least common feature of Multiple Myeloma?

Accepted Answer

Hyperviscosity syndrome

Answer

Bone pain

Answer

Normocytic normochromic anemia

Answer

Susceptibility to bacterial infection

Question 5

A 70-year-old male presented with anorexia, weakness, and paresthesia. Investigations revealed a hemoglobin of 5.8 g/dL, a peripheral smear showing macrocytes and neutrophils with hypersegmented nuclei, and sluggish tendon reflexes. Endoscopy revealed atrophic gastritis. Deficiency of which of the following factors can lead to such a clinical situation?

Accepted Answer

Vitamin B12

Answer

Folic acid

Answer

Pyridoxine

Answer

Riboflavin

Question 6

A patient over 70 years of age presents with generalized lymphadenopathy. The WBC count is 20,000/mm³ and the blood film shows more than 70% mature-looking lymphocytes. What is the next investigation that should be performed?

Accepted Answer

Peripheral immunophenotyping

Answer

Lymph node biopsy

Answer

Bone marrow aspiration

Answer

Peripheral blood cytogenetics

Question 7

A 20-year-old female presents to the medical OPD with severe pain and redness over the dorsum of her foot. She has a past history of severe abdominal pain episodes. Peripheral smear shows anemia with the presence of poikilocytes. What is the likely diagnosis?

Accepted Answer

Sickle cell anemia

Answer

Hemoglobin C disease

Answer

Thalassemia minor

Answer

G6PD deficiency

Question 8

Which of the following does not cause megaloblastic anemia?

Accepted Answer

Chloroquine

Answer

Phenytoin

Answer

Sulfasalazine

Answer

Alcohol

Question 9

A 43-year-old woman complains of constant tiredness, light-headedness, and occasional palpitations and shortness of breath. Physical examination shows pallor of the oral mucosa and glossitis. Neurologic examination reveals paresthesias, numbness, decreased vibration sensation, and loss of deep tendon reflexes. Laboratory studies include hemoglobin of 7.2 g/dL, WBC of 4,500/mL, platelets of 140,000/mL, erythrocyte folate of 220 ng/mL, serum vitamin B12 of 40 pg/mL, serum anti-intrinsic factor of 1:128, and serum anti-parietal cell antibody of 1:64. Peripheral blood shows macrocytic anemia with poikilocytosis of RBCs and hypersegmented neutrophils. Atrophic gastritis is diagnosed by gastric biopsy. What is the expected bone marrow examination finding in this patient?

Accepted Answer

Hypercellularity with megaloblastic erythroid maturation

Answer

Absent stainable bone marrow iron

Answer

Atypical megakaryocytes with fibrosis

Answer

Hypocellularity with absence of erythroid precursors

Question 10

All of the following are true about Chronic Lymphocytic Leukemia, except?

Accepted Answer

T lymphocyte CLL is more common

Answer

Diagnosed on routine blood tests

Answer

Leukocytosis is prominent

Answer

Can present as acute leukemia

Hematology — MCQs

Hematology — MCQs

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