Hematology Practice Questions

Q: Which of the following is false regarding Kasabach syndrome?

Coagulopathy is absent.. **Explanation:** **Kasabach-Merritt Syndrome (KMS)** is a rare, life-threatening condition characterized by the association of a rapidly growing vascular tumor with **consumptive coagulopathy**. **1. Why Option B is the Correct Answer (The False Statement):** The hallmark of Kasabach-Merritt Syndrome is severe **consumptive coagulopathy**. Within the abnormal architecture of the vascular tumor, there is intense platelet sequestration and activation of the clotting cascade. This leads to the depletion of platelets, fibrinogen, and other clotting factors, often resulting in Disseminated Intravascular Coagulation (DIC). Therefore, stating that coagulopathy is absent is medically incorrect. **2. Analysis of Other Options:** * **Options A & C:** KMS typically arises as a complication of specific vascular tumors. While historically associated with "giant hemangiomas," it is now more accurately linked to **Kaposiform hemangioendothelioma** or **Tufted angioma**. * **Option D:** **Thrombocytopenia** is a cardinal feature. Platelets are trapped and destroyed within the tumor (sequestration), leading to profound low platelet counts and a high risk of spontaneous bleeding. **High-Yield Clinical Pearls for NEET-PG:** * **Classic Triad:** Large vascular tumor + Thrombocytopenia + Consumptive Coagulopathy (low fibrinogen, elevated D-dimer). * **Most Common Site:** Trunk and extremities; however, it can occur retroperitoneally. * **Treatment:** The first-line medical therapy is often **Sirolimus** (mTOR inhibitor) or Corticosteroids. Surgery is rarely feasible due to the infiltrative nature and bleeding risk. * **Distinction:** It is *not* usually seen with common infantile (strawberry) hemangiomas.

Q: A 4-year-old boy develops severe bleeding into the knee joint. Laboratory studies show that serum levels of factor IX are reduced, but levels of factor VIII are normal. What is the appropriate diagnosis?

Hemophilia B. ### Explanation **Correct Option: B. Hemophilia B** The clinical presentation of severe bleeding into a joint (**hemarthrosis**) in a young boy is a classic hallmark of Hemophilia. Hemophilia B, also known as **Christmas Disease**, is an X-linked recessive disorder caused by a deficiency of **Coagulation Factor IX**. Since the laboratory findings specifically indicate reduced Factor IX levels with normal Factor VIII levels, Hemophilia B is the definitive diagnosis. **Why other options are incorrect:** * **Hemophilia A:** While it presents identically to Hemophilia B (hemarthrosis, X-linked inheritance), it is caused by a deficiency of **Factor VIII**. The normal Factor VIII levels in this patient rule it out. * **Henoch-Schönlein Purpura (HSP):** This is a small-vessel vasculitis characterized by a tetrad of palpable purpura, arthritis, abdominal pain, and renal involvement. It does not typically cause deep-tissue or joint bleeding (hemarthrosis) and is not associated with factor deficiencies. * **Idiopathic Thrombocytopenic Purpura (ITP):** This is a platelet disorder. It typically presents with superficial bleeding like **petechiae, ecchymosis, and mucosal bleeding** (epistaxis), rather than deep-seated joint bleeds. Coagulation factors are normal in ITP. **High-Yield Clinical Pearls for NEET-PG:** * **Inheritance:** Both Hemophilia A and B are **X-linked recessive** (affecting males; females are carriers). * **Lab Profile:** Characterized by **prolonged aPTT** (intrinsic pathway) with a **normal PT and Bleeding Time**. * **Mixing Study:** Prolonged aPTT will **correct** when mixed with normal plasma (differentiates deficiency from inhibitors). * **Treatment:** Factor replacement is the mainstay. For Hemophilia B, use Factor IX concentrate. Fresh Frozen Plasma (FFP) is used if specific factors are unavailable.

Q: A 6-month-old baby presents with severe pallor and hepatosplenomegaly. A similar history is present in a sibling. What is the investigation of choice?

Hb electrophoresis. ### Explanation The clinical presentation of a 6-month-old infant with **severe pallor**, **hepatosplenomegaly**, and a **positive sibling history** strongly suggests a diagnosis of **Beta-Thalassemia Major**. **1. Why Hb Electrophoresis is the Correct Answer:** In India, Thalassemia Major is the most common cause of transfusion-dependent anemia in infancy. Symptoms typically appear after 6 months of age as the physiological switch from fetal hemoglobin (HbF) to adult hemoglobin (HbA) fails due to defective beta-chain synthesis. **Hb Electrophoresis** (or HPLC) is the gold standard investigation of choice because it confirms the diagnosis by demonstrating: * **Absence or marked reduction of HbA.** * **Significantly elevated HbF** (often >90%). * Variable levels of HbA2. **2. Why Other Options are Incorrect:** * **Bone Marrow Biopsy:** While it shows erythroid hyperplasia, it is invasive and non-specific. It is not required for diagnosing hemoglobinopathies. * **Hb Estimation:** This confirms the presence and severity of anemia (pallor) but does not provide the etiology or specific diagnosis. * **Platelet Count:** This is usually normal in thalassemia unless there is significant hypersplenism (causing thrombocytopenia), but it is not a diagnostic tool for the primary condition. **3. Clinical Pearls for NEET-PG:** * **Age of onset:** Symptoms appear at 6 months because HbF (which uses gamma chains) is replaced by HbA (which requires beta chains). * **Skeletal changes:** Chronic erythroid hyperplasia leads to "Chipmunk facies" and a "Hair-on-end" appearance on skull X-ray. * **HPLC (High-Performance Liquid Chromatography):** Often preferred over electrophoresis in modern practice for its speed and quantification accuracy. * **Peripheral Smear:** Shows microcytic hypochromic anemia with target cells and nucleated RBCs.

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.

Question 1

A 3-year-old child presents with bruising and generalized petechiae. There is no hepatosplenomegaly or lymphadenopathy. The child had a history of viral illness 2 weeks prior. Investigations reveal normal hemoglobin, hematocrit, and white blood cell (WBC) count and differential. The platelet count is 19,000/µL. Which of the following is NOT associated with this clinical presentation?

Accepted Answer

Cytomegalovirus

Answer

Ebstein-Barr virus

Answer

HIV

Answer

Helicobacter pylori

Question 2

Which of the following is false regarding Kasabach syndrome?

Accepted Answer

Coagulopathy is absent.

Answer

May be a complication of a hemangioma.

Answer

Due to complication of hemangioma.

Answer

Thrombocytopenia is present.

Question 3

A 4-year-old boy develops severe bleeding into the knee joint. Laboratory studies show that serum levels of factor IX are reduced, but levels of factor VIII are normal. What is the appropriate diagnosis?

Accepted Answer

Hemophilia B

Answer

Hemophilia A

Answer

Henoch-Schonlein purpura

Answer

Idiopathic thrombocytopenic purpura

Question 4

A 6-month-old baby presents with severe pallor and hepatosplenomegaly. A similar history is present in a sibling. What is the investigation of choice?

Accepted Answer

Hb electrophoresis

Answer

Bone marrow biopsy

Answer

Hb estimation

Answer

Platelet count

Question 5

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 6

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 7

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 8

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 9

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 10

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

Hematology — MCQs

Hematology — MCQs

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