Hematology Practice Questions

Q: All of the following statements about Fanconi's anemia are true, except?

Autosomal dominant inheritance. ### Explanation **Fanconi’s Anemia (FA)** is the most common cause of inherited bone marrow failure. The correct answer is **Option A** because Fanconi’s anemia is primarily an **Autosomal Recessive** disorder. A small subset of cases (Type B) is X-linked recessive, but it is **not** autosomal dominant. #### Analysis of Options: * **A. Autosomal dominant inheritance (Incorrect Statement):** As stated, FA follows an autosomal recessive pattern. It is caused by mutations in the FANC genes, leading to defects in DNA repair (specifically interstrand cross-link repair). * **B. Hypocellular bone marrow (True):** FA typically presents as progressive **Aplastic Anemia**. The bone marrow becomes hypocellular as hematopoietic stem cells are depleted, leading to pancytopenia. * **C. Congenital Anomalies (True):** Approximately 60-70% of patients have physical abnormalities. The most characteristic are **thumb and radial ray defects**, short stature, microcephaly, and "café-au-lait" spots. * **D. Macrocytic cell morphology (True):** An elevated **Mean Corpuscular Volume (MCV)** and increased fetal hemoglobin (HbF) are often the earliest hematological signs, appearing even before the onset of overt anemia. #### High-Yield Clinical Pearls for NEET-PG: * **Gold Standard Diagnosis:** The **Chromosomal Breakage Test** using Diepoxybutane (DEB) or Mitomycin C (MMC). FA cells show increased sensitivity to DNA cross-linking agents. * **Cancer Predisposition:** Patients have a significantly high risk of developing **AML** (Acute Myeloid Leukemia) and squamous cell carcinomas (especially of the head, neck, and vulva). * **Classic Triad:** Pancytopenia + Thumb/Radial anomalies + Hyperpigmentation (Café-au-lait spots). * **Treatment:** Hematopoietic Stem Cell Transplant (HSCT) is the only curative treatment for hematologic manifestations.

Q: In which one of the following conditions can dactylitis not be seen?

Beta-thalassemia. **Explanation:** **Dactylitis** (Hand-foot syndrome) refers to the painful inflammation of the small bones of the hands and feet. The correct answer is **Beta-thalassemia** because it is a disorder of hemoglobin synthesis characterized by ineffective erythropoiesis and chronic hemolysis, but it does not typically cause acute vaso-occlusion or direct infection of the phalanges. **Why the other options are incorrect:** * **Sickle-cell anemia (SCA):** This is the most common cause of dactylitis in infants (6 months to 2 years). It occurs due to **vaso-occlusive crises** leading to infarction of the bone marrow and periosteum of the metacarpals and metatarsals. * **Congenital Syphilis:** It causes **syphilitic osteochondritis** or periostitis. When it involves the small bones of the hands/feet, it is termed "syphilitic dactylitis," typically presenting with painless swelling. * **Tuberculosis (TB):** Known as **Spina Ventosa**, tuberculous dactylitis involves a painless, "ballooning" expansion of the short tubular bones due to granulomatous infiltration and endosteal erosion. **Clinical Pearls for NEET-PG:** 1. **First Sign:** Dactylitis is often the **earliest clinical manifestation** of Sickle Cell Anemia in pediatric patients. 2. **Age Factor:** In SCA, dactylitis rarely occurs after age 5 because the hematopoietic bone marrow in the small bones is replaced by fatty marrow. 3. **Differential Diagnosis:** Other causes include Sarcoidosis (Lupus Pernio) and Psoriatic Arthritis (Sausage digits). 4. **Radiology:** In TB (Spina Ventosa), X-rays show cystic expansion of bone with a "wind-filled" appearance.

Q: Which of the following statements is FALSE about Fanconi anemia?

Patients typically have tall stature.. **Explanation:** Fanconi Anemia (FA) is the most common cause of **inherited bone marrow failure syndrome**. The hallmark of the disease is chromosomal instability due to defects in the DNA repair pathway. **Why Option C is the Correct (False) Statement:** Patients with Fanconi Anemia typically present with **short stature**, not tall stature. Growth retardation is a classic physical finding, often associated with endocrine abnormalities like growth hormone deficiency or hypothyroidism. **Analysis of Other Options:** * **Option A (Autosomal Recessive):** Most cases of FA follow an autosomal recessive inheritance pattern (e.g., FANCA, FANCC genes). A rare subtype (FANCB) is X-linked recessive. * **Option B (DNA Repair Defects):** The underlying pathophysiology involves a defect in the **FANC pathway**, which is responsible for repairing **DNA interstrand cross-links**. This leads to hypersensitivity to DNA-damaging agents like Mitomycin C or Diepoxybutane (DEB). * **Option D (Kidney Hypoplasia):** Structural anomalies are present in 60-75% of patients. Renal anomalies, including **kidney hypoplasia**, horseshoe kidney, or ectopic kidneys, are very common. **High-Yield Clinical Pearls for NEET-PG:** * **Physical Findings:** Microcephaly, **absent or hypoplastic thumbs**, radial ray defects, and **Café-au-lait spots**. * **Hematology:** Progressive pancytopenia (usually presents between 5–10 years of age) and macrocytic anemia. * **Malignancy Risk:** High predisposition to **AML** (Acute Myeloid Leukemia) and squamous cell carcinomas (head, neck, and anogenital). * **Gold Standard Diagnosis:** **Chromosomal Breakage Analysis** (using Mitomycin C or DEB).

Q: A nine-month-old boy presented with progressive lethargy, irritability, and pallor since 6 months of age. Examination revealed severe pallor. Investigations showed Hb: 3.8 mg/dL; MCV: 58 fL; MCH: 19.4 pg/cell. Blood film shows target cells and normoblasts, with normal osmotic fragility. X-ray skull shows expansion of the erythroid marrow. Which of the following is the most likely diagnosis?

Iron deficiency anemia. The clinical presentation of progressive pallor, lethargy, and irritability in a nine-month-old infant, combined with severe microcytic hypochromic anemia (Hb: 3.8 g/dL, MCV: 58 fL, MCH: 19.4 pg), strongly points toward **Iron Deficiency Anemia (IDA)**. **Why IDA is the correct answer:** In infants, IDA typically manifests between 6–24 months as maternal iron stores deplete. The peripheral smear findings of **target cells** and **normoblasts** (nucleated RBCs) are compensatory responses to severe, chronic anemia and hypoxia. The **X-ray skull showing expansion of erythroid marrow** (widening of the diploic space) is a classic sign of compensatory extramedullary or intense intramedullary erythropoiesis, which occurs in severe, long-standing cases of IDA in children, similar to Thalassemia. **Why other options are incorrect:** * **Acute Lymphoblastic Leukemia (ALL):** While it causes pallor and anemia, it usually presents with thrombocytopenia (petechiae), lymphadenopathy, or hepatosplenomegaly, and the anemia is typically normocytic. * **Hemoglobin D Disease:** This is usually asymptomatic or causes very mild hemolytic anemia; it would not explain such severe hemoglobin depletion (3.8 g/dL) or significant marrow expansion. * **Hereditary Spherocytosis:** This presents with **increased** osmotic fragility and spherocytes on the blood film. The question explicitly mentions **normal osmotic fragility**, ruling this out. **NEET-PG High-Yield Pearls:** * **Most common cause** of microcytic hypochromic anemia worldwide: Iron Deficiency Anemia [1]. * **Target cells** are seen in: **HALT** (HbC, Asplenia, Liver disease, Thalassemia) and occasionally severe IDA. * **Skull X-ray:** The "Hair-on-end" appearance is most common in Thalassemia Major but can occur in any severe chronic hemolytic anemia or severe IDA in childhood. * **Mentzer Index (MCV/RBC count):** >13 suggests IDA; <13 suggests Thalassemia trait.

Q: Persistent priapism in childhood is most commonly due to which of the following conditions?

Sickle cell anaemia. **Explanation:** **Sickle Cell Anaemia (SCA)** is the most common cause of persistent priapism in the pediatric population. The underlying mechanism involves **stasis and sickling** of red blood cells within the sinusoids of the *corpora cavernosa*. This leads to a low-flow (ischemic) state, causing venous obstruction and painful, prolonged erections. In children with SCA, priapism can present as "stuttering" (recurrent short episodes) or as a major prolonged episode requiring emergency intervention to prevent permanent erectile dysfunction. **Analysis of Incorrect Options:** * **Hairy Cell Leukaemia (HCL):** While certain leukemias (like CML) can cause priapism due to hyperleukocytosis and hyperviscosity, HCL is extremely rare in childhood and is not a primary cause of pediatric priapism. * **Paraphimosis:** This is a urological emergency where the foreskin is trapped behind the glans penis, causing edema and pain. While it involves swelling, it is an external anatomical issue, not a true persistent erection (priapism). * **Urethral Stenosis:** This refers to the narrowing of the urethra, leading to obstructive voiding symptoms. It does not involve the vascular mechanisms required to trigger priapism. **NEET-PG High-Yield Pearls:** * **Type of Priapism:** Sickle cell disease typically causes **Ischemic (Low-flow) Priapism**, which is a medical emergency. * **Initial Management:** Hydration, analgesia, and oxygenation. If these fail, aspiration of blood from the corpora cavernosa or intracavernosal injection of alpha-adrenergic agonists (e.g., phenylephrine) is indicated. * **Other common causes in adults:** Medications (e.g., sildenafil, trazodone, antipsychotics) and spinal cord injuries.

Q: A healthy 3-year-old girl presents with acute onset of petechiae, purpura, and epistaxis. Her Hb is 12 g/dl, WBC is 5550/mm3, and platelet count is 2000/mm3. What is the most likely diagnosis?

Idiopathic thrombocytopenic purpura (ITP). **Explanation:** The clinical presentation of a previously healthy child with sudden onset of mucocutaneous bleeding (petechiae, purpura, epistaxis) and **isolated thrombocytopenia** (platelets <100,000/mm³) is the hallmark of **Immune Thrombocytopenic Purpura (ITP)**. In ITP, anti-platelet antibodies lead to peripheral destruction of platelets, typically following a viral prodrome. The diagnosis is one of exclusion, supported here by the normal hemoglobin (12 g/dl) and WBC count (5550/mm³), which rule out bone marrow failure or systemic illness. **Why other options are incorrect:** * **Acute Lymphoblastic Leukemia (ALL):** While it causes thrombocytopenia, it usually presents with "pancytopenia" or abnormalities in other cell lines (anemia, abnormal WBCs), along with systemic features like fever, bone pain, and hepatosplenomegaly. * **Aplastic Anemia:** This involves bone marrow failure leading to pancytopenia. A normal Hb and WBC count effectively rule this out. * **Disseminated Intravascular Coagulation (DIC):** DIC occurs in critically ill patients (sepsis, trauma) and involves a consumptive coagulopathy. This child is described as "healthy" and "acute onset," making DIC highly unlikely. **High-Yield Clinical Pearls for NEET-PG:** * **Peak Age:** 2–5 years; often follows a viral infection (e.g., URTI). * **Bone Marrow Findings:** Not routinely required unless atypical features are present, but if done, it shows **increased megakaryocytes**. * **Management:** Most pediatric cases are self-limiting. Treatment (IVIG or Corticosteroids) is indicated if there is significant mucosal bleeding or if the platelet count is <10,000–20,000/mm³. * **Rule of Thumb:** Isolated thrombocytopenia in an otherwise well-appearing child = ITP.

Q: What is the approximate percentage of HbF in a 6-month-old infant?

10%. **Explanation:** The transition from fetal hemoglobin (HbF, $\alpha_2\gamma_2$) to adult hemoglobin (HbA, $\alpha_2\beta_2$) is a critical physiological process that begins in utero and accelerates after birth. **Why 10% is correct:** At birth, HbF constitutes approximately **60–80%** of total hemoglobin. Following birth, the synthesis of gamma ($\gamma$) chains decreases while beta ($\beta$) chain synthesis increases. By the age of **6 months**, HbF levels typically decline to approximately **5–10%**. By 12 months of age, HbF reaches near-adult levels (usually <2%). **Analysis of Incorrect Options:** * **Option B (30%):** This level is typically seen around 3 months of age as the "hemoglobin switch" is mid-transition. * **Options C and D (50–60%):** These levels are characteristic of a newborn or an infant in the first few weeks of life. HbF at 60% at six months would be pathological, suggesting a hemoglobinopathy like Beta-Thalassemia Major or Hereditary Persistence of Fetal Hemoglobin (HPFH). **High-Yield Clinical Pearls for NEET-PG:** * **The Switch:** The physiological nadir (lowest point) of hemoglobin occurs at **2–3 months** of age (Physiological Anemia of Infancy) due to the transition from HbF to HbA and increased tissue oxygenation. * **HbF Structure:** Composed of two alpha ($\alpha$) and two gamma ($\gamma$) chains. It has a **higher affinity for oxygen** than HbA because it binds poorly to 2,3-BPG, facilitating oxygen transfer from mother to fetus. * **Clinical Relevance:** Symptoms of Beta-Thalassemia Major do not manifest until **6 months of age** because the high levels of HbF present earlier protect the infant from the effects of $\beta$-chain deficiency.

Q: A 5-year-old male child presents with severe transfusion-requiring anemia and jaundice. On examination, the liver and spleen are palpable 5 cm below the costal margin. Peripheral smear analysis shows findings consistent with a specific diagnosis. What is your diagnosis?

Thalassemia. ***Thalassemia*** • **Microcytic hypochromic RBCs**, **target cells**, **nucleated RBCs**, and **poikilocytosis** on peripheral smear are pathognomonic for thalassemia major in a young child with severe anemia. • **Massive hepatosplenomegaly** (5 cm below costal margin) occurs due to **extramedullary hematopoiesis** and **iron overload**, characteristic of thalassemia major requiring regular transfusions. *Nutritional anemia* • Would typically present as **iron deficiency** with **microcytic hypochromic** RBCs but without **target cells** or **nucleated RBCs** on peripheral smear. • Does not cause **massive hepatosplenomegaly** or require **frequent transfusions** in early childhood. *Aplastic anemia* • Characterized by **pancytopenia** with **hypocellular bone marrow**, not isolated severe anemia with abnormal RBC morphology. • Peripheral smear shows **normocytic normochromic** RBCs without the characteristic findings of **target cells** or **nucleated RBCs**. *Autoimmune hemolytic anemia* • Would show **spherocytes** and **polychromasia** on peripheral smear, not the **microcytic hypochromic** pattern with **target cells**. • Typically responds to **immunosuppressive therapy** rather than requiring chronic transfusions from early childhood.

Question 1

All of the following statements about Fanconi's anemia are true, except?

Accepted Answer

Autosomal dominant inheritance

Answer

Hypocellular bone marrow

Answer

Congenital Anomalies

Answer

Usually non-normocytic/macrocytic cell morphology

Question 2

A neonate presented with hepatosplenomegaly and generalized edema shortly after birth. What is the most probable diagnosis?

Accepted Answer

Alpha-thalassemia

Answer

Beta-thalassemia

Answer

Hereditary spherocytosis

Answer

ABO incompatibility/sickle cell anemia

Question 3

A 6-year-old child from a Punjabi family with a past history of blood transfusions presents with hemoglobin of 3.5 gm/dL and MCV of 30 fL. Peripheral smear findings show microcytic hypochromic anemia with target cells and reduced osmotic fragility. What is the probable diagnosis?

Accepted Answer

Beta thalassemia

Answer

Alpha thalassemia

Answer

Sickle cell anemia

Answer

G6PD deficiency

Question 4

In which one of the following conditions can dactylitis not be seen?

Accepted Answer

Beta-thalassemia

Answer

Sickle-cell anemia

Answer

Congenital syphilis

Answer

Tuberculosis

Question 5

Which of the following statements is FALSE about Fanconi anemia?

Accepted Answer

Patients typically have tall stature.

Answer

It is an autosomal recessive disorder.

Answer

It is caused by defects in DNA repair.

Answer

Kidney hypoplasia is a common feature.

Question 6

A nine-month-old boy presented with progressive lethargy, irritability, and pallor since 6 months of age. Examination revealed severe pallor. Investigations showed Hb: 3.8 mg/dL; MCV: 58 fL; MCH: 19.4 pg/cell. Blood film shows target cells and normoblasts, with normal osmotic fragility. X-ray skull shows expansion of the erythroid marrow. Which of the following is the most likely diagnosis?

Accepted Answer

Iron deficiency anemia

Answer

Acute lymphoblastic leukemia

Answer

Hemoglobin D disease

Answer

Hereditary spherocytosis

Question 7

Persistent priapism in childhood is most commonly due to which of the following conditions?

Accepted Answer

Sickle cell anaemia

Answer

Hairy cell leukaemia

Answer

Paraphimosis

Answer

Urethral stenosis

Question 8

A healthy 3-year-old girl presents with acute onset of petechiae, purpura, and epistaxis. Her Hb is 12 g/dl, WBC is 5550/mm3, and platelet count is 2000/mm3. What is the most likely diagnosis?

Accepted Answer

Idiopathic thrombocytopenic purpura (ITP)

Answer

Acute lymphoblastic leukemia (ALL)

Answer

Aplastic anemia

Answer

Disseminated intravascular coagulation (DIC)

Question 9

What is the approximate percentage of HbF in a 6-month-old infant?

Accepted Answer

10%

Answer

30%

Answer

50%

Answer

60%

Question 10

A 5-year-old male child presents with severe transfusion-requiring anemia and jaundice. On examination, the liver and spleen are palpable 5 cm below the costal margin. Peripheral smear analysis shows findings consistent with a specific diagnosis. What is your diagnosis?

Accepted Answer

Thalassemia

Answer

Nutritional anemia

Answer

Aplastic anemia

Answer

Autoimmune hemolytic anemia

Hematology — MCQs

Hematology — MCQs

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