Thalassemia – Recognition & Management Basics MCQ Quiz | Hematology

Welcome, MBBS students! This quiz is designed to test your understanding of the fundamental principles of Thalassemia, a critical topic in Hematology. Covering pathophysiology, clinical recognition, laboratory diagnosis, and management basics, these 25 multiple-choice questions will help you consolidate your knowledge. Engage with each question carefully to assess your grasp of concepts like globin chain synthesis, inheritance patterns, and the rationale behind treatments such as blood transfusions and iron chelation. After submitting your answers, you will receive your score and a detailed review of the correct and incorrect responses. You can also download a PDF version of all questions with their correct answers for future revision. Good luck!

1. The fundamental pathophysiology of β-thalassemia involves:

Deletion of β-globin genes Reduced or absent synthesis of β-globin chains Formation of abnormal β-globin chains (e.g., HbS) Autoimmune destruction of red blood cells

2. A couple, both carriers of β-thalassemia trait, are planning a family. What is the probability that their child will have β-thalassemia major?

0% 25% 50% 100%

3. A peripheral blood smear from a patient with β-thalassemia major would most characteristically show:

Macrocytic, normochromic RBCs with Howell-Jolly bodies Normocytic, normochromic RBCs with spherocytes Severe microcytic, hypochromic anemia with target cells and basophilic stippling Pancytopenia with circulating blast cells

4. In a classic case of untransfused β-thalassemia major, what is the expected finding on hemoglobin electrophoresis?

Predominantly HbA, with slightly elevated HbA2 Presence of HbS and HbF Markedly elevated HbF, very low or absent HbA Normal hemoglobin pattern

5. The Mentzer Index (MCV/RBC count) is useful in differentiating thalassemia trait from iron deficiency anemia. A value less than 13 is more suggestive of:

Thalassemia trait Iron deficiency anemia Anemia of chronic disease Sideroblastic anemia

6. The term “chipmunk facies” in patients with severe, untreated thalassemia is a result of:

Deposition of iron in facial bones Massive expansion of the bone marrow for erythropoiesis Parotid gland enlargement due to endocrine dysfunction Splenomegaly causing upward displacement of facial structures

7. What is the cornerstone of management for a patient with β-thalassemia major to ensure adequate growth and development?

Folic acid supplementation High-dose iron therapy Regular, life-long packed red blood cell transfusions Hydroxyurea therapy

8. The most significant long-term complication of chronic blood transfusions in thalassemia patients is:

Alloimmunization Transfusion-transmitted infections Volume overload Iron overload (hemosiderosis)

9. What is the primary purpose of iron chelation therapy in transfusion-dependent thalassemia?

To increase the oxygen-carrying capacity of blood To stimulate erythropoiesis in the bone marrow To prevent organ damage from excess iron deposition To treat infections associated with a weakened immune system

10. The genetic basis of α-thalassemia is most commonly due to:

Point mutations in the α-globin gene promoter Deletions of one or more α-globin genes Formation of unstable α-globin chains Increased synthesis of γ-globin chains

11. Which clinical condition represents the most severe form of α-thalassemia, incompatible with extrauterine life?

HbH disease α-thalassemia trait Hemoglobin Barts hydrops fetalis Silent carrier state

12. Hemoglobin H (HbH) disease, which results from the deletion of three α-globin genes, is characterized by the formation of tetramers of which globin chain?

Alpha (α4) Beta (β4) Gamma (γ4) Delta (δ4)

13. An asymptomatic 28-year-old patient’s CBC shows mild microcytic anemia (MCV 65 fL). Iron studies are normal. Hb electrophoresis reveals HbA2 of 5.5% (Normal <3.5%). What is the most likely diagnosis?

Iron deficiency anemia Anemia of chronic disease β-thalassemia trait α-thalassemia trait

14. Which of the following is a primary indication for splenectomy in a patient with thalassemia major?

All patients with splenomegaly Hypersplenism causing a marked increase in transfusion requirements As a prophylactic measure to prevent iron overload Presence of gallstones

15. Deferasirox and Deferiprone are examples of which class of drugs used in thalassemia management?

Erythropoiesis-stimulating agents Oral iron chelators Fetal hemoglobin inducers Immunosuppressants

16. The ineffective erythropoiesis seen in β-thalassemia is primarily caused by:

Precipitation of excess, unmatched α-globin chains within erythroblasts Lack of iron availability for heme synthesis Suppression of bone marrow by high levels of erythropoietin Antibody-mediated destruction of red cell precursors

17. Extramedullary hematopoiesis in thalassemia can lead to which of the following clinical problems?

Renal failure Aplastic crisis Spinal cord compression from paravertebral masses Pulmonary fibrosis

18. A key component of comprehensive thalassemia care, especially for couples from high-prevalence regions, is:

Routine antibiotic prophylaxis Universal splenectomy Aggressive iron supplementation Carrier screening and genetic counseling

19. The characteristic “hair-on-end” appearance on a skull X-ray of a patient with severe thalassemia is due to:

Widening of the diploic space by erythroid marrow expansion Iron deposition in the skull bones Periosteal reaction to chronic inflammation Osteoporotic changes from endocrine dysfunction

20. In the complete absence of α-globin chain synthesis (hydrops fetalis), the predominant hemoglobin found is composed of tetramers of gamma chains (γ4). What is this hemoglobin called?

Hemoglobin H Hemoglobin A2 Hemoglobin Barts Hemoglobin F

21. What is the leading cause of mortality in patients with transfusion-dependent β-thalassemia who receive inadequate iron chelation?

Overwhelming post-splenectomy sepsis Severe anemia Cardiac complications from iron overload (cardiomyopathy, arrhythmias) Hepatocellular carcinoma

22. Luspatercept is a newer therapeutic agent for β-thalassemia that works by:

Promoting late-stage erythrocyte maturation and reducing ineffective erythropoiesis Directly chelating iron from the liver and heart Introducing a functional β-globin gene into hematopoietic stem cells Inducing the production of fetal hemoglobin (HbF)

23. Which of the following is a definitive method for antenatal diagnosis of thalassemia in a fetus?

Maternal serum screening Fetal ultrasound showing hepatosplenomegaly DNA analysis from chorionic villus sampling or amniocentesis Measuring maternal HbA2 levels

24. A 15-year-old patient with thalassemia intermedia has a hemoglobin level consistently around 8 g/dL and is growing well without transfusions. What is the most appropriate initial approach?

Initiate a regular transfusion and chelation regimen immediately Perform an immediate splenectomy Monitor for complications and consider transfusions only if symptoms or complications develop Start therapy with high-dose corticosteroids

25. A silent carrier of α-thalassemia typically has which genotype and clinical presentation?

Deletion of one α-globin gene (–/αα); clinically and hematologically normal Deletion of two α-globin genes (–/–); severe microcytic anemia Deletion of three α-globin genes (–/-α); results in HbH disease Deletion of one α-globin gene (-α/αα); clinically and hematologically normal or borderline MCV

G S Sachin

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