Hematology — MCQs

Hematology Indian Medical PG Practice Questions and MCQs

Question 141: All of the following statements about Fanconi's anemia are true, except?

A. Autosomal dominant inheritance (Correct Answer)
B. Hypocellular bone marrow
C. Congenital Anomalies
D. Usually non-normocytic/macrocytic cell morphology

Explanation: ### 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.

Question 142: A neonate presented with hepatosplenomegaly and generalized edema shortly after birth. What is the most probable diagnosis?

A. Beta-thalassemia
B. Alpha-thalassemia (Correct Answer)
C. Hereditary spherocytosis
D. ABO incompatibility/sickle cell anemia

Explanation: ### **Explanation** The clinical presentation of generalized edema (hydrops fetalis) and hepatosplenomegaly in a neonate is highly suggestive of **Hb Bart’s hydrops fetalis**, the most severe form of **Alpha-thalassemia**. **1. Why Alpha-thalassemia is correct:** Alpha-thalassemia involves the deletion of alpha-globin genes. In its most severe form (deletion of all 4 alpha genes), no alpha chains are produced. Since fetal hemoglobin (HbF) requires alpha chains ($\alpha_2\gamma_2$), the fetus instead produces **Hb Bart’s** ($\gamma_4$). Hb Bart’s has an extremely high affinity for oxygen, failing to release it to tissues. This leads to severe intrauterine hypoxia, high-output cardiac failure, massive extramedullary hematopoiesis (causing hepatosplenomegaly), and ultimately **Hydrops Fetalis**. **2. Why the other options are incorrect:** * **Beta-thalassemia:** Symptoms do not appear at birth because neonates primarily have HbF ($\alpha_2\gamma_2$). Beta-chain production only becomes significant at 3–6 months of age when HbF switches to HbA ($\alpha_2\beta_2$). * **Hereditary Spherocytosis:** While it can cause neonatal jaundice and splenomegaly, it rarely presents with hydrops fetalis or life-threatening edema immediately at birth. * **Sickle Cell Anemia:** Similar to Beta-thalassemia, it involves the beta-globin chain. Therefore, it remains asymptomatic in the neonatal period until HbF levels decline. * **ABO Incompatibility:** Usually results in mild jaundice; severe hydrops is rare compared to Rh incompatibility. **3. NEET-PG High-Yield Pearls:** * **Hb Bart’s:** Tetramer of gamma chains ($\gamma_4$). * **Hb H Disease:** Deletion of 3 alpha genes; tetramer of beta chains ($\beta_4$). Seen in older children as microcytic anemia with "golf ball" inclusions (brilliant cresyl blue stain). * **Hydrops Fetalis:** Defined as abnormal fluid accumulation in $\geq$2 fetal compartments (e.g., ascites, pleural effusion, skin edema). * **Alpha-thalassemia** is common in Southeast Asian, Greek, and Turkish populations.

Question 143: What is true about acute ITP?

A. Specific antiplatelet antibodies are detected
B. Viral infection predisposes, as seen after vaccination
C. More common in children
D. All of the above (Correct Answer)

Explanation: **Explanation:** Immune Thrombocytopenic Purpura (ITP) in children is typically an acute, self-limiting condition characterized by isolated thrombocytopenia (platelet count <100,000/mm³) without an identifiable cause. * **Option A:** The pathogenesis involves the production of **IgG autoantibodies** against platelet surface antigens (most commonly **GPIIb/IIIa**). These antibody-coated platelets are subsequently destroyed by splenic macrophages. While clinical diagnosis is usually presumptive, these specific antibodies are the underlying cause. * **Option B:** Acute ITP is frequently preceded by a **viral prodrome** (e.g., URTI, EBV, Varicella) or **vaccinations** (notably MMR) in 70-80% of cases. This occurs due to molecular mimicry where antibodies against viral antigens cross-react with platelet membranes. * **Option C:** Acute ITP is significantly **more common in children** (peak age 2–5 years), whereas the chronic form is more typical in adults. Since all three statements accurately describe the pathophysiology and epidemiology of the disease, **Option D** is the correct answer. **High-Yield Clinical Pearls for NEET-PG:** * **Bone Marrow Findings:** Shows increased or normal megakaryocytes (compensatory response). Bone marrow biopsy is *not* mandatory unless atypical features (fever, bone pain, lymphadenopathy) are present. * **Treatment:** Most cases resolve spontaneously. If bleeding is significant, **IVIG** (fastest action) or **Corticosteroids** are first-line. * **Prognosis:** 80% of children recover within 6 months. If it persists >12 months, it is termed **Chronic ITP**. * **Avoid:** Platelet transfusion is generally contraindicated unless life-threatening bleeding occurs, as the antibodies will destroy the transfused platelets.

Question 144: All of the following are true of beta-thalassemia major, except?

A. Splenomegaly
B. Target cells on peripheral smear
C. Microcytic hypochromic anemia
D. Increased osmotic fragility (Correct Answer)

Explanation: **Explanation:** The correct answer is **D. Increased osmotic fragility**. In Beta-thalassemia major, the osmotic fragility is actually **decreased**, not increased. **1. Why "Increased osmotic fragility" is the correct (False) statement:** Osmotic fragility depends on the surface-area-to-volume ratio of the red blood cell (RBC). In Thalassemia, the cells are thin, flattened (leptocytes), and have a high surface-area-to-volume ratio. These cells can withstand significantly more osmotic stress (influx of water) before bursting compared to normal biconcave cells. Therefore, they show **decreased osmotic fragility**. *Note: Increased osmotic fragility is a hallmark of Hereditary Spherocytosis, where cells are spherical with a low surface-area-to-volume ratio.* **2. Analysis of Incorrect Options (True statements for Thalassemia):** * **A. Splenomegaly:** This occurs due to chronic extramedullary hematopoiesis and the sequestration of abnormal RBCs by the splenic macrophages. * **B. Target cells:** These are characteristic findings on a peripheral smear. They result from an excess of cell membrane relative to the reduced hemoglobin content. * **C. Microcytic hypochromic anemia:** Due to the defect in beta-globin chain synthesis, there is reduced hemoglobin production, leading to small (low MCV) and pale (low MCHC) RBCs. **High-Yield Clinical Pearls for NEET-PG:** * **Mentzer Index:** (MCV/RBC count) < 13 suggests Thalassemia trait; > 13 suggests Iron Deficiency Anemia. * **X-ray findings:** "Hair-on-end" appearance of the skull and "Malar prominence" (Chipmunk facies) due to compensatory bone marrow expansion. * **Hb Electrophoresis:** In Beta-thalassemia major, there is a complete absence or marked reduction of HbA, with compensatory increases in **HbF** and **HbA2**.

Question 145: 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?

A. Alpha thalassemia
B. Beta thalassemia (Correct Answer)
C. Sickle cell anemia
D. G6PD deficiency

Explanation: ### Explanation **Correct Option: B (Beta Thalassemia)** The clinical presentation is classic for **Beta-thalassemia major**. The key diagnostic pointers are: * **Epidemiology:** High prevalence in certain Indian communities like Punjabis, Sindhis, and Bhanushalis. * **Severe Anemia:** A hemoglobin of 3.5 g/dL indicates severe transfusion-dependent anemia. * **Microcytosis:** An MCV of 30 fL is extremely low (characteristically lower in Thalassemia than in Iron Deficiency Anemia). * **Peripheral Smear:** Target cells (codocytes) are a hallmark of thalassemia due to the relative excess of cell membrane compared to hemoglobin content. * **Osmotic Fragility:** It is **reduced** because the hypochromic, flattened cells can withstand more osmotic stress before bursting compared to normal RBCs. **Why other options are incorrect:** * **Alpha Thalassemia:** While it also presents with microcytosis, the severe form (Hb Bart’s) usually results in hydrops fetalis (death in utero), and HbH disease is less common in this demographic compared to Beta-thalassemia. * **Sickle Cell Anemia:** This is a normocytic anemia characterized by sickle cells on the smear and vaso-occlusive crises. It does not typically present with an MCV as low as 30 fL. * **G6PD Deficiency:** This is an episodic hemolytic anemia triggered by oxidative stress (e.g., fava beans, drugs). The smear shows **Heinz bodies** and **Bite cells**, not chronic microcytic hypochromic anemia. **High-Yield Clinical Pearls for NEET-PG:** * **Mentzer Index:** (MCV/RBC count) < 13 suggests Thalassemia; > 13 suggests Iron Deficiency Anemia. * **NESTROFT:** (Naked Eye Single Tube Red Cell Osmotic Fragility Test) is a common screening tool for Thalassemia trait. * **Gold Standard Diagnosis:** Hb Electrophoresis or HPLC (High-Performance Liquid Chromatography). In Beta-thalassemia major, there is an absence of HbA and a predominance of **HbF**. * **Radiology:** "Hair-on-end" appearance of the skull due to extramedullary hematopoiesis.

Question 146: In which one of the following conditions can dactylitis not be seen?

A. Sickle-cell anemia
B. Beta-thalassemia (Correct Answer)
C. Congenital syphilis
D. Tuberculosis

Explanation: **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.

Question 147: Which of the following statements is FALSE about Fanconi anemia?

A. It is an autosomal recessive disorder.
B. It is caused by defects in DNA repair.
C. Patients typically have tall stature. (Correct Answer)
D. Kidney hypoplasia is a common feature.

Explanation: **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).

Question 148: Persistent priapism in childhood is most commonly due to which of the following conditions?

A. Sickle cell anaemia (Correct Answer)
B. Hairy cell leukaemia
C. Paraphimosis
D. Urethral stenosis

Explanation: **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.

Question 149: 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?

A. Idiopathic thrombocytopenic purpura (ITP) (Correct Answer)
B. Acute lymphoblastic leukemia (ALL)
C. Aplastic anemia
D. Disseminated intravascular coagulation (DIC)

Explanation: **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.

Question 150: Apt test is useful for the diagnosis of which of the following conditions?

A. Disseminated Intravascular Coagulation (DIC)
B. Swallowed Maternal Blood (Correct Answer)
C. Hemorrhagic disease of the newborn
D. Neonatal thrombocytopenic purpura

Explanation: **Explanation:** The **Apt test** (also known as the Apt-Downey test) is a qualitative test used to differentiate between **fetal hemoglobin (HbF)** and **adult hemoglobin (HbA)**. It is primarily used in neonates presenting with hematemesis or melena to determine if the blood is from the infant (gastrointestinal bleed) or if it is **swallowed maternal blood** (e.g., during delivery or from cracked nipples during breastfeeding). **Mechanism:** The test relies on the principle that **HbF is alkali-resistant**, while HbA is alkali-labile. When sodium hydroxide (1% NaOH) is added to the blood sample: * **Fetal Blood:** Remains **pink** (HbF does not denature). * **Maternal Blood:** Turns **yellow-brown** (HbA denatures into alkaline hematin). **Analysis of Incorrect Options:** * **A. DIC:** This is a consumptive coagulopathy diagnosed via platelet counts, PT/aPTT, and D-dimer levels, not hemoglobin differentiation. * **C. Hemorrhagic disease of the newborn (VKDB):** Caused by Vitamin K deficiency. Diagnosis is based on prolonged PT/INR and clinical response to Vitamin K. * **D. Neonatal thrombocytopenic purpura:** This is a platelet disorder (low count) often due to maternal antibodies (NAIT/ITP); it does not involve the presence of maternal red cells in the infant's secretions. **High-Yield Clinical Pearls for NEET-PG:** * **Sample Requirement:** The specimen must contain **grossly red blood**. If the blood is already digested (tarry stools/melena), the test is unreliable. * **Modified Kleihauer-Betke (KB) Test:** While Apt test differentiates blood in stools/vomitus, the KB test is used to quantify fetal-maternal hemorrhage in the maternal circulation. * **Management:** If the Apt test is positive for maternal blood, the neonate requires no further invasive workup, only observation.

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Hematology — MCQs

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