Hematology Practice Questions

Q: In a case of acute hemarthrosis in hemophilia, what is the recommended duration of treatment with factor VIII along with fresh frozen plasma?

Until joint effusion subsides. **Explanation:** The primary goal in managing acute hemarthrosis in a Hemophilia patient is to stop the bleeding, relieve pain, and prevent long-term joint destruction (hemophilic arthropathy). **Why the correct answer is right:** The duration of factor replacement therapy is not fixed by a specific number of days but is **clinically guided**. Treatment must continue **until joint effusion subsides** and range of motion returns to baseline. Stopping therapy prematurely while the joint is still swollen or inflamed significantly increases the risk of "re-bleeding," which can lead to a vicious cycle of chronic synovitis and permanent joint damage. **Why the incorrect options are wrong:** * **Options A (3 days) & B (7 days):** While many simple bleeds resolve within 3–5 days, these are arbitrary timeframes. Severe bleeds or those in "target joints" may require longer therapy. Fixed durations do not account for individual clinical response. * **Option C (1 day):** A single dose is rarely sufficient for hemarthrosis. While it may stop active bleeding, it does not address the inflammatory process of the synovium, leading to a high failure rate. **Clinical Pearls for NEET-PG:** * **Factor Levels:** For acute hemarthrosis, the target Factor VIII level is **40–50%**. For life-threatening bleeds (CNS/Muscle), the target is **80–100%**. * **Calculation:** 1 unit/kg of Factor VIII raises plasma levels by **2%**. (Dose = Weight × Desired % increase × 0.5). * **Adjuvant Therapy:** Use **RICE** (Rest, Ice, Compression, Elevation). Avoid Aspirin/NSAIDs; use Paracetamol for pain. * **FFP Note:** While the question mentions FFP, it is rarely used today due to volume overload; **Factor concentrates** or **Cryoprecipitate** (for Hemophilia A) are preferred.

Q: A 3-month-old infant has suffered recurrent episodes of fever, skin pustules, and pneumonia since the first week of life. Repeated blood counts have shown the absolute neutrophil count (ANC) to be less than 500/mm3, whereas hemoglobin and platelet count are normal. What is the most likely diagnosis?

Kostmann disease. **Explanation:** The clinical presentation of recurrent bacterial infections (pustules, pneumonia, fever) starting in early infancy, combined with isolated severe neutropenia (ANC < 500/mm³), is classic for **Kostmann disease** (Severe Congenital Neutropenia). 1. **Why Kostmann Disease is correct:** It is an autosomal recessive disorder characterized by a maturation arrest of neutrophil precursors in the bone marrow at the promyelocyte/myelocyte stage. This leads to persistent, profound neutropenia from birth, making infants highly susceptible to life-threatening pyogenic infections. 2. **Why other options are incorrect:** * **Aplastic Anemia:** This involves pancytopenia (low RBCs, WBCs, and platelets). The question specifies that hemoglobin and platelet counts are normal. * **Congenital Leukemia:** This typically presents with hepatosplenomegaly, lymphadenopathy, and "blueberry muffin" skin nodules. While it can cause neutropenia, it usually shows blasts on a peripheral smear and abnormal counts in other cell lines. * **Cyclic Neutropenia:** In this condition, neutropenia occurs in regular cycles (typically every 21 days). Between cycles, the ANC improves. The persistent nature of the low ANC since the first week of life in this infant points toward Kostmann disease rather than a cyclic pattern. **High-Yield Clinical Pearls for NEET-PG:** * **Genetic Mutation:** The most common mutation in Severe Congenital Neutropenia is **ELANE** (autosomal dominant), though the term "Kostmann" specifically refers to the **HAX1** mutation (autosomal recessive). * **Bone Marrow Finding:** Characterized by **"Maturation Arrest"** at the promyelocyte stage. * **Treatment:** Recombinant human Granulocyte Colony-Stimulating Factor (**G-CSF**) is the mainstay. * **Risk:** These patients have a significantly increased risk of developing **AML** (Acute Myeloid Leukemia) or MDS.

Q: Transient myeloproliferative disorder of the newborn is seen in association with which of the following genetic conditions?

Down syndrome. **Explanation:** **Transient Myeloproliferative Disorder (TMD)**, also known as Transient Abnormal Myelopoiesis (TAM), is a unique hematologic condition characterized by the clonal proliferation of megakaryoblasts. It occurs almost exclusively in neonates with **Down syndrome (Trisomy 21)**. **Why Down Syndrome is Correct:** The pathogenesis involves a synergistic relationship between the extra copy of chromosome 21 and an acquired somatic mutation in the **GATA1 gene**. This mutation leads to the production of a truncated protein (GATA1s), which triggers uncontrolled proliferation of immature megakaryocytes in the fetal liver and bone marrow. While TMD usually resolves spontaneously within the first 3 months of life, approximately 20-30% of these children later develop **Acute Megakaryoblastic Leukemia (AMKL/M7)**. **Why Other Options are Incorrect:** * **Turner Syndrome (45, XO):** Associated with coarctation of the aorta and horseshoe kidney, but not specifically with TMD or neonatal leukemia. * **Neurofibromatosis (NF1):** While NF1 increases the risk of Juvenile Myelomonocytic Leukemia (JMML), it is not associated with TMD. * **Ataxia Telangiectasia:** This is a DNA repair defect (ATM gene) that predisposes patients to lymphomas and lymphocytic leukemias later in childhood, not neonatal TMD. **High-Yield Clinical Pearls for NEET-PG:** * **Gene Mutation:** GATA1 (Shortened/truncated version). * **Clinical Presentation:** Hepatosplenomegaly, jaundice, and high peripheral blast count in a neonate with Down syndrome features. * **Prognosis:** Most cases regress spontaneously; however, survivors must be monitored for the development of **AMKL (AML-M7)**. * **Treatment:** Usually observation; low-dose Cytarabine is reserved only for life-threatening organ dysfunction.

Q: A 6-year-old child presents with abdominal pain, chronic hemolysis, and abnormal red blood cell shape on peripheral smear. What is the most likely underlying genetic mechanism for this condition?

Point mutation. **Explanation:** The clinical presentation of chronic hemolysis, abdominal pain (likely due to vaso-occlusive crises or biliary stones), and abnormal RBC morphology in a child is classic for **Sickle Cell Anemia (SCA)**. **Why Point Mutation is Correct:** Sickle Cell Anemia is caused by a specific **point mutation (missense mutation)** in the $\beta$-globin gene on chromosome 11. Specifically, there is a substitution of **Adenine by Thymine (GAG $\rightarrow$ GTG)**, which leads to the replacement of the amino acid **Glutamic acid by Valine** at the 6th position of the $\beta$-globin chain. This change creates hydrophobic patches that cause hemoglobin polymerization under deoxygenated conditions, leading to the characteristic "sickle" shape. **Why Other Options are Incorrect:** * **Trinucleotide repeat expansion:** This is the mechanism for disorders like Huntington’s disease or Fragile X syndrome, not hemoglobinopathies. * **Antibodies against RBC membrane:** This describes **Autoimmune Hemolytic Anemia (AIHA)**. While it causes hemolysis, it is an acquired condition, not a primary genetic mechanism, and typically shows spherocytes rather than sickle cells. * **Genetic imprinting:** This involves gene silencing (e.g., Prader-Willi or Angelman syndromes) and does not play a role in structural hemoglobin defects. **High-Yield Clinical Pearls for NEET-PG:** * **Diagnosis:** Solubility test (screening) and **Hb Electrophoresis** (confirmatory; shows HbS). * **Peripheral Smear:** Sickle cells and **Howell-Jolly bodies** (indicating functional asplenia). * **Most common infection:** *Streptococcus pneumoniae* (due to autosplenectomy). * **Most common cause of Osteomyelitis:** *Salmonella*. * **Management:** Hydroxyurea (increases HbF levels).

Q: Which organ is the primary site of hematopoiesis in the fetus before mid-pregnancy?

Liver. **Explanation:** The site of hematopoiesis in the fetus undergoes a well-defined chronological progression, often referred to as the "Mesoblastic," "Hepatic," and "Myeloid" phases. 1. **Why Liver is Correct:** The **Liver** is the primary site of hematopoiesis during the **Hepatic phase**, which begins around the 6th week of gestation and peaks between the **3rd and 6th months (mid-pregnancy)**. While the yolk sac initiates blood cell formation, the liver takes over as the dominant organ until the bone marrow becomes fully functional in the third trimester. 2. **Why Other Options are Incorrect:** * **Bone (Bone Marrow):** This represents the **Myeloid phase**. Bone marrow hematopoiesis begins around the 4th month but only becomes the *primary* site after the 24th week (late second trimester/third trimester). * **Spleen:** The spleen contributes to hematopoiesis between the 3rd and 6th months, but its role is secondary and significantly less than that of the liver. * **Lung:** The lungs are not a recognized site of physiological fetal hematopoiesis. **High-Yield Clinical Pearls for NEET-PG:** * **Chronology Mnemonic:** **"Young Liver Synthesizes Blood"** * **Y**olk Sac (3–8 weeks) * **L**iver (6 weeks – birth; peak at 3–6 months) * **S**pleen (10–28 weeks) * **B**one Marrow (18 weeks onwards; primary after 28 weeks) * **First Site:** The yolk sac (specifically blood islands) is the very first site of hematopoiesis. * **Post-natal:** In adults, the liver and spleen can resume hematopoiesis (**Extramedullary Hematopoiesis**) in pathological states like Myelofibrosis or Thalassemia.

Q: A 17-year-old girl with mild von Willebrand disease is scheduled for dental extraction. She has a previous history of bleeding during surgery. What medication can be given prophylactically to prevent bleeding?

Desmopressin. ### Explanation **Correct Answer: C. Desmopressin (DDAVP)** **Mechanism and Rationale:** Desmopressin (DDAVP) is the treatment of choice for patients with **Type 1 von Willebrand Disease (vWD)**, which accounts for approximately 80% of cases. It is a synthetic analogue of vasopressin that stimulates the release of endogenous **vWF and Factor VIII** from the Weibel-Palade bodies of endothelial cells. In minor surgical procedures like dental extractions, a single dose of DDAVP (intravenous or intranasal) can transiently increase vWF levels 3 to 5-fold, providing adequate hemostasis without the need for blood products. **Analysis of Incorrect Options:** * **A. Cryoprecipitate:** While it contains vWF and Factor VIII, it is no longer recommended due to the risk of transfusion-transmitted infections (TTIs). It is reserved only for life-threatening emergencies where specific concentrates are unavailable. * **B. Fresh Frozen Plasma (FFP):** FFP contains low concentrations of vWF and requires large volumes to achieve therapeutic levels, risking fluid overload. It is not a first-line treatment for vWD. * **D. High-purity Factor VIII concentrates:** These are used in Hemophilia A but are **ineffective** in vWD because the purification process removes vWF. If factor replacement is needed (e.g., in Type 3 vWD or major surgery), **Intermediate-purity Factor VIII concentrates** (which contain vWF) or recombinant vWF should be used. **NEET-PG High-Yield Pearls:** * **vWD Type 1:** Quantitative deficiency (Most common). * **vWD Type 2:** Qualitative defect. * **vWD Type 3:** Severe, total deficiency (Autosomal Recessive). * **DDAVP Side Effect:** Hyponatremia (due to water retention); patients should be advised to restrict fluid intake for 24 hours post-administration. * **Diagnostic Clue:** Prolonged Bleeding Time (BT) and potentially prolonged aPTT, with a normal Platelet Count.

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.

Question 1

In a case of acute hemarthrosis in hemophilia, what is the recommended duration of treatment with factor VIII along with fresh frozen plasma?

Accepted Answer

Until joint effusion subsides

Answer

3 days

Answer

7 days

Answer

1 day

Question 2

A 3-month-old infant has suffered recurrent episodes of fever, skin pustules, and pneumonia since the first week of life. Repeated blood counts have shown the absolute neutrophil count (ANC) to be less than 500/mm3, whereas hemoglobin and platelet count are normal. What is the most likely diagnosis?

Accepted Answer

Kostmann disease

Answer

Aplastic anemia

Answer

Congenital leukemia

Answer

Cyclic neutropenia

Question 3

Transient myeloproliferative disorder of the newborn is seen in association with which of the following genetic conditions?

Accepted Answer

Down syndrome

Answer

Turner syndrome

Answer

Neurofibromatosis

Answer

Ataxia telangiectasia

Question 4

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 5

A 6-year-old child presents with abdominal pain, chronic hemolysis, and abnormal red blood cell shape on peripheral smear. What is the most likely underlying genetic mechanism for this condition?

Accepted Answer

Point mutation

Answer

Trinucleotide repeat expansion

Answer

Antibodies against RBC membrane

Answer

Genetic imprinting

Question 6

Which organ is the primary site of hematopoiesis in the fetus before mid-pregnancy?

Accepted Answer

Liver

Answer

Bone

Answer

Spleen

Answer

Lung

Question 7

A seven-year-old girl presents with repeated episodes of bleeding into joints. On investigation, her APTT was found to be prolonged and PT was normal. Which of the following is the most likely diagnosis?

Accepted Answer

Von Willebrand Disease

Answer

Factor VII deficiency

Answer

Factor VIII deficiency

Answer

Factor XII deficiency

Question 8

A 17-year-old girl with mild von Willebrand disease is scheduled for dental extraction. She has a previous history of bleeding during surgery. What medication can be given prophylactically to prevent bleeding?

Accepted Answer

Desmopressin

Answer

Cryoprecipitate

Answer

Fresh Frozen Plasma (FFP)

Answer

High-purity Factor VIII concentrates

Question 9

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 10

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

Hematology — MCQs

Hematology — MCQs

On this page

Practice by Chapter

Want unlimited practice?