Hematology Practice Questions

Q: A 5-year-old boy presents with petechial bleeding and bruising on his torso and limbs. He has no other signs or symptoms and does not appear ill. His mother reports a gastrointestinal infection several weeks prior to the onset of petechiae and bruising. Complete blood count reveals thrombocytopenia (<20 x 10^9/L), with other parameters within the expected range for his age. Prothrombin time, partial thromboplastin time, and metabolic panels are all within the reference range. What is the expected outcome of this blood disorder?

Complete resolution is expected.. ### Explanation The clinical presentation describes a classic case of **Immune Thrombocytopenic Purpura (ITP)**, the most common cause of isolated thrombocytopenia in children. **1. Why Option A is Correct:** In children, ITP typically follows a viral infection (respiratory or gastrointestinal) after a 1–4 week latent period. It is characterized by the sudden onset of petechiae and bruising in an otherwise healthy-appearing child. The hallmark is **isolated thrombocytopenia** (Platelets <100 x 10⁹/L) with normal PT, PTT, and hemoglobin. The prognosis is excellent; approximately **70–80% of children achieve complete spontaneous resolution** within 6 months, regardless of therapy. **2. Why the Other Options are Incorrect:** * **Option B:** This refers to the survival rates of pediatric malignancies like Acute Lymphoblastic Leukemia (ALL). While ALL presents with bruising, it typically involves "sick" symptoms (fever, bone pain), hepatosplenomegaly, and abnormalities in other cell lines (anemia/leukocytosis). * **Options C & D:** These describe **Hemophilia A (Factor VIII)** and **Hemophilia B (Factor IX)**. Hemophilias are coagulation factor deficiencies that present with deep tissue bleeds (hemarthrosis/hematomas) and a **prolonged aPTT**, rather than petechiae and isolated thrombocytopenia. **3. NEET-PG High-Yield Pearls:** * **Pathophysiology:** Anti-platelet antibodies (IgG) directed against GP IIb/IIIa or GP Ib/IX. * **Bone Marrow:** Not routinely required but would show **increased megakaryocytes** (compensatory). * **Management:** Observation is preferred if bleeding is minimal (dry purpura). If treatment is needed (wet purpura/active bleeding), **IVIG** or **Corticosteroids** are first-line. * **Chronic ITP:** Defined as thrombocytopenia persisting >12 months (occurs in ~20% of cases).

Q: A patient presents with ecchymoses and petechiae all over the body and no hepatosplenomegaly. Which of the following statements is NOT true?

Bleeding into the joints. **Explanation:** The clinical presentation of petechiae and ecchymoses (superficial skin bleeds) without hepatosplenomegaly in a pediatric patient is a classic description of **Immune Thrombocytopenic Purpura (ITP)**. **Why Option B is the Correct Answer (The "NOT True" statement):** Bleeding into the joints (**Hemarthrosis**) is a hallmark of **coagulation factor deficiencies** (secondary hemostasis defects), such as Hemophilia. In contrast, platelet disorders like ITP present with **mucocutaneous bleeding** (petechiae, purpura, epistaxis, and gum bleeding). Hemarthrosis is extremely rare in ITP. **Analysis of Incorrect Options:** * **Option A (Increased megakaryocytes):** In ITP, platelets are destroyed peripherally by anti-platelet antibodies. The bone marrow responds by increasing production, leading to an increased number of megakaryocytes. * **Option C (Decreased platelets):** Thrombocytopenia (isolated low platelet count) is the defining laboratory feature of ITP. * **Option D (Self-resolution):** Acute ITP in children is typically a self-limiting condition. Approximately 80% of cases resolve spontaneously within 2–6 months (often following a viral infection) without requiring aggressive intervention. **Clinical Pearls for NEET-PG:** * **ITP Diagnosis:** It is a diagnosis of exclusion. The absence of hepatosplenomegaly and lymphadenopathy is crucial to rule out leukemia. * **First-line Treatment:** If treatment is indicated (usually when platelets 12 months. * **Platelet vs. Coagulation Bleeding:** * *Platelet defects:* Immediate bleeding, petechiae, mucosal involvement. * *Coagulation defects:* Delayed bleeding, deep hematomas, hemarthrosis.

Q: A 2-year-old child presents with discharge, seborrheic dermatitis, polyuria, and hepatosplenomegaly. Which of the following is the most likely diagnosis?

Langerhan's cell histiocytosis. ### Explanation The clinical presentation described is a classic manifestation of **Langerhans Cell Histiocytosis (LCH)**, specifically the multisystem variant (formerly known as Letterer-Siwe disease or Hand-Schüller-Christian syndrome). **Why Option C is Correct:** LCH is a proliferative disorder of myeloid dendritic cells. The diagnosis is based on a characteristic "clinical triad" and associated findings: 1. **Skin Involvement:** Seborrheic dermatitis-like rash (often involving the scalp, diaper area, and trunk) is a hallmark. 2. **Ear Involvement:** Chronic ear discharge (otitis media/externa) that is refractory to antibiotics. 3. **Diabetes Insipidus (DI):** Infiltration of the posterior pituitary leads to polyuria and polydipsia. 4. **Organomegaly:** Hepatosplenomegaly and lymphadenopathy indicate multisystem involvement, which carries a poorer prognosis. **Why Other Options are Incorrect:** * **Leukemia (A):** While it causes hepatosplenomegaly and bone pain, it does not typically present with seborrheic dermatitis or diabetes insipidus. * **Lymphoma (B):** Primarily presents with painless lymphadenopathy and B-symptoms (fever, weight loss). It rarely causes the specific combination of skin rash and polyuria. * **Germ Cell Tumor (D):** While these can occur in the pineal/suprasellar region causing DI, they do not present with seborrheic dermatitis or hepatosplenomegaly. **High-Yield Clinical Pearls for NEET-PG:** * **Pathognomonic Marker:** **Birbeck granules** (tennis-racket shaped) seen on Electron Microscopy. * **Immunohistochemistry (IHC):** Positive for **CD1a, S100, and CD207 (Langerin)**. * **Radiology:** "Punched-out" lytic lesions in the skull. * **Hand-Schüller-Christian Triad:** Lytic bone lesions, Exophthalmos, and Diabetes Insipidus.

Q: An 8-year-old boy presented with altered sensorium, nausea, vomiting, severe headache, and right-sided weakness. There was no history of trauma. On further examination, it was observed that the joints of the child were tender and stiff. The mother gave a history of easy bruising along with frequent episodes of epistaxis and hematemesis. Lab findings revealed normal hematocrit with a normal platelet count and PT, and an abnormally prolonged aPTT. Which of the following drugs is approved in the mild and moderate variants of the above disease?

Desmopressin. ### **Explanation** **Diagnosis: Hemophilia A** The clinical presentation of joint tenderness/stiffness (hemarthrosis), easy bruising, and mucosal bleeding (epistaxis, hematemesis) in a young boy points toward a bleeding disorder. The neurological symptoms (headache, vomiting, weakness) suggest an **intracranial hemorrhage**, a life-threatening complication of Hemophilia. * **Lab Profile:** Normal PT and Platelet count with a **prolonged aPTT** indicates a defect in the intrinsic pathway, specifically **Factor VIII (Hemophilia A)** or Factor IX (Hemophilia B). **Why Desmopressin (DDAVP) is Correct:** Desmopressin is a synthetic analog of vasopressin. It acts on **V2 receptors** to trigger the release of **Factor VIII and von Willebrand Factor (vWF)** from endothelial storage sites (Weibel-Palade bodies). It is the treatment of choice for **mild to moderate Hemophilia A** and Type 1 vWD because it transiently raises endogenous Factor VIII levels, avoiding the need for plasma-derived products. **Why Other Options are Incorrect:** * **Octreotide:** A somatostatin analog used for secretory diarrhea, acromegaly, and variceal bleeding; it has no role in coagulation factor release. * **Conivaptan:** A dual V1a/V2 receptor antagonist used for hyponatremia (SIADH); it would block the desired effect in this patient. * **Sacubitril:** A neprilysin inhibitor used in heart failure (usually combined with Valsartan); it has no effect on the hematological system. **Clinical Pearls for NEET-PG:** * **Hemophilia A:** X-linked recessive; Factor VIII deficiency. * **Mixing Study:** Prolonged aPTT in Hemophilia **corrects** when mixed with normal plasma (distinguishes it from factor inhibitors). * **DDAVP Side Effect:** Hyponatremia (due to water retention); fluid restriction is often advised during its use. * **Contraindication:** DDAVP is **ineffective in Severe Hemophilia A** (Factor VIII <1%) because there are no endogenous stores to release.

Q: A 10-year-old child presents with short stature, pallor, multiple petechiae, and a hypoplastic thumb. Laboratory findings include HB of 7 g/dL, a normal reticulocyte count (1%), hematocrit of 25%, and an absolute neutrophil count of 200/mm³. What is the most likely diagnosis?

Fanconi's anemia. ### Explanation **1. Why Fanconi’s Anemia (FA) is the Correct Answer:** The clinical presentation is a classic triad of **Pancytopenia**, **Congenital Anomalies**, and **Short Stature**. * **Hematology:** The patient has anemia (Hb 7 g/dL), thrombocytopenia (petechiae), and neutropenia (ANC 200/mm³), indicating bone marrow failure. * **Physical Findings:** The **hypoplastic thumb** is a pathognomonic physical finding for Fanconi’s Anemia. * **Pathophysiology:** FA is an autosomal recessive DNA repair defect (chromosomal instability) leading to progressive bone marrow failure, typically manifesting between ages 5 and 10. **2. Why Other Options are Incorrect:** * **B. HIV Bone Marrow Infection:** While HIV can cause pancytopenia, it does not explain the congenital skeletal anomalies like a hypoplastic thumb or short stature. * **C. Hypersplenism:** This usually causes "sequestration" bicytopenia/pancytopenia, but it is associated with splenomegaly and would not present with congenital limb defects. * **D. Parvovirus B19/TEC:** These conditions typically cause **pure red cell aplasia** (isolated anemia with low reticulocytes). They do not cause neutropenia, thrombocytopenia, or skeletal malformations. **3. NEET-PG High-Yield Pearls:** * **Gold Standard Diagnosis:** Chromosomal breakage analysis using **Diepoxybutane (DEB)** or Mitomycin C. * **Most Common Skeletal Abnormality:** Absent or hypoplastic thumb/radius. * **Skin Findings:** Café-au-lait spots and hyperpigmentation. * **Malignancy Risk:** High risk of developing **AML** and squamous cell carcinomas (head and neck). * **Treatment:** Bone marrow transplant is the definitive cure for hematologic manifestations.

Q: "Chipmunk face" is characteristically seen in?

Beta thalassemia major. **Explanation:** **Beta Thalassemia Major (Correct Answer):** The "Chipmunk face" (or Thalassemic facies) is a classic manifestation of **ineffective erythropoiesis** and chronic hemolytic anemia. In Beta Thalassemia Major, the body attempts to compensate for severe anemia by expanding the bone marrow (erythroid hyperplasia). This **extramedullary hematopoiesis** causes the marrow cavities of the facial and cranial bones to expand, leading to: * Prominent cheekbones (malar prominence). * Frontal bossing. * Depressed nasal bridge. * Protrusion of the upper jaw (maxillary hypertrophy) with malocclusion of teeth. On X-ray, this marrow expansion in the skull gives the characteristic **"Hair-on-end" appearance**. **Why other options are incorrect:** * **Fetal Alcohol Syndrome:** Characterized by a smooth philtrum, thin upper lip, and short palpebral fissures, but not bony overgrowth. * **Cushing’s Syndrome:** Presents with a **"Moon face"** due to redistribution of adipose tissue (fat), not bony changes. * **Acromegaly:** Features frontal bossing and a prominent jaw (**prognathism**) due to excess Growth Hormone in adults, but it is not described as "chipmunk-like." **High-Yield Clinical Pearls for NEET-PG:** * **Management:** Regular blood transfusions are required, which can lead to **secondary hemosiderosis** (iron overload). * **Iron Chelation:** Usually started when ferritin levels exceed 1000 ng/ml or after 10–20 transfusions. * **Hb Electrophoresis:** Shows absence or marked reduction of HbA, with significantly elevated **HbF**.

Q: Increased fetal hemoglobin is seen in which of the following conditions?

Juvenile chronic myeloid leukemia (CML). **Explanation:** The correct answer is **Juvenile Chronic Myeloid Leukemia (JCML)**, now more commonly classified under Juvenile Myelomonocytic Leukemia (JMML). **1. Why JCML is correct:** JCML is a unique pediatric clonal myeloproliferative disorder. A hallmark feature of this condition is **"fetal-like erythropoiesis."** In JCML, the red blood cell precursors revert to a fetal phenotype, leading to a significant elevation of **Fetal Hemoglobin (HbF)**, often reaching 15–50% of total hemoglobin. This is a crucial diagnostic marker that helps differentiate JCML from adult-type CML occurring in children. **2. Why other options are incorrect:** * **Congenital red cell aplasia (Diamond-Blackfan Anemia):** While HbF can be elevated in this condition due to stress erythropoiesis, it is not the classic diagnostic association compared to the dramatic rise seen in JCML. * **Hereditary spherocytosis:** This is a red cell membrane defect. Hemoglobin electrophoresis is typically normal; there is no inherent mechanism for increased HbF production. * **Acute myeloid leukemia (AML):** While some cases of erythroleukemia (M6) might show minor elevations, increased HbF is not a characteristic or diagnostic feature of AML. **Clinical Pearls for NEET-PG:** * **JCML Triad:** Hepatosplenomegaly, lymphadenopathy, and skin rash (often xanthomas or café-au-lait spots). * **Diagnostic Clue:** Absence of the Philadelphia chromosome ($t[9;22]$) distinguishes JCML from adult CML. * **Other conditions with high HbF:** Beta-thalassemia major, Sickle cell anemia, and Hereditary Persistence of Fetal Hemoglobin (HPFH). * **JMML Association:** Strongly associated with **Neurofibromatosis type 1 (NF1)** and Noonan syndrome.

Question 1

A 5-year-old boy presents with petechial bleeding and bruising on his torso and limbs. He has no other signs or symptoms and does not appear ill. His mother reports a gastrointestinal infection several weeks prior to the onset of petechiae and bruising. Complete blood count reveals thrombocytopenia (<20 x 10^9/L), with other parameters within the expected range for his age. Prothrombin time, partial thromboplastin time, and metabolic panels are all within the reference range. What is the expected outcome of this blood disorder?

Accepted Answer

Complete resolution is expected.

Answer

Survival rate is up to 70% depending on risk stratification.

Answer

Lifelong disease dependent on factor VIII substitution.

Answer

Lifelong disease dependent on factor IX substitution.

Question 2

A 9-year-old girl develops widespread pinpoint skin hemorrhages after recovering from a flu-like illness 1 week earlier. Laboratory findings reveal a platelet count of 20,000/mL with no other abnormalities. Her bone marrow shows an increased number of megakaryocytes. The platelet count is normal after 2 months. Which of the following is the appropriate diagnosis?

Accepted Answer

Idiopathic thrombocytopenic purpura

Answer

Antiphospholipid antibody syndrome

Answer

Disseminated intravascular coagulation

Answer

Hemolytic-uremic syndrome

Question 3

A patient presents with ecchymoses and petechiae all over the body and no hepatosplenomegaly. Which of the following statements is NOT true?

Accepted Answer

Bleeding into the joints

Answer

Increased megakaryocytes in bone marrow

Answer

Decreased platelets in blood

Answer

Disease resolves itself in 80% of patients in 2-6 weeks

Question 4

A 2-year-old child presents with discharge, seborrheic dermatitis, polyuria, and hepatosplenomegaly. Which of the following is the most likely diagnosis?

Accepted Answer

Langerhan's cell histiocytosis

Answer

Leukemia

Answer

Lymphoma

Answer

Germ cell tumor

Question 5

An 8-year-old boy presented with altered sensorium, nausea, vomiting, severe headache, and right-sided weakness. There was no history of trauma. On further examination, it was observed that the joints of the child were tender and stiff. The mother gave a history of easy bruising along with frequent episodes of epistaxis and hematemesis. Lab findings revealed normal hematocrit with a normal platelet count and PT, and an abnormally prolonged aPTT. Which of the following drugs is approved in the mild and moderate variants of the above disease?

Accepted Answer

Desmopressin

Answer

Octreotide

Answer

Conivaptan

Answer

Sacubitril

Question 6

A 10-year-old child presents with short stature, pallor, multiple petechiae, and a hypoplastic thumb. Laboratory findings include HB of 7 g/dL, a normal reticulocyte count (1%), hematocrit of 25%, and an absolute neutrophil count of 200/mm³. What is the most likely diagnosis?

Accepted Answer

Fanconi's anemia

Answer

HIV bone marrow infection

Answer

Hypersplenism-induced bicytopenia

Answer

Parvovirus B19 infection with transient erythroblastopenia of childhood

Question 7

What type of transfusion is ideally recommended for children with thalassemia?

Accepted Answer

Saline washed packed RBC

Answer

Packed RBC

Answer

Platelet rich plasma

Answer

Whole blood

Question 8

"Chipmunk face" is characteristically seen in?

Accepted Answer

Beta thalassemia major

Answer

Fetal alcohol syndrome

Answer

Cushing's syndrome

Answer

Acromegaly

Question 9

Increased fetal hemoglobin is seen in which of the following conditions?

Accepted Answer

Juvenile chronic myeloid leukemia (CML)

Answer

Congenital red cell aplasia

Answer

Hereditary spherocytosis

Answer

Acute myeloid leukemia (AML)

Question 10

Which of the following is true about acute idiopathic thrombocytopenic purpura (ITP)?

Accepted Answer

Viral infections predispose to ITP.

Answer

It is more common in adults.

Answer

Detection of specific anti-platelet antibodies is mandatory for diagnosis.

Answer

Approximately 80% of cases transform into chronic ITP.

Hematology — MCQs

Hematology — MCQs

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