Hereditary anemia MCQs With Answer are essential study aids for B. Pharm students focusing on inherited red cell disorders like thalassemia, sickle cell disease, hereditary spherocytosis and enzyme defects such as G6PD deficiency. This clear, exam-oriented introduction summarizes pathophysiology, inheritance patterns, diagnostic clues (MCV, Hb electrophoresis, peripheral smear), complications and pharmacologic management including transfusion, iron chelation, hydroxyurea and drugs to avoid. Practicing targeted multiple-choice questions improves clinical reasoning for prescription safety, patient counselling and therapeutic monitoring in pharmacy practice. These MCQs emphasize applied knowledge and exam readiness for B. Pharm curricula. Now let’s test your knowledge with 50 MCQs on this topic.
Q1. Which inheritance pattern is most common for sickle cell disease?
- Autosomal dominant
- Autosomal recessive
- X-linked recessive
- Mitochondrial
Correct Answer: Autosomal recessive
Q2. The molecular lesion in sickle cell disease is:
- A deletion of the beta-globin gene
- A point mutation substituting valine for glutamic acid in beta-globin
- A frameshift mutation in alpha-globin
- A nonsense mutation in the gamma-globin gene
Correct Answer: A point mutation substituting valine for glutamic acid in beta-globin
Q3. Beta-thalassemia major typically shows which hemoglobin pattern on electrophoresis?
- Normal HbA predominance
- Absent HbA with markedly increased HbF
- Increased HbA2 only
- Predominant HbS
Correct Answer: Absent HbA with markedly increased HbF
Q4. Alpha-thalassemia is most commonly caused by:
- Point mutations in beta-globin
- Deletions of one or more alpha-globin genes
- Autoimmune destruction of RBCs
- Iron deficiency
Correct Answer: Deletions of one or more alpha-globin genes
Q5. Which lab finding is typical of hereditary spherocytosis?
- Increased osmotic fragility of RBCs
- Decreased MCHC
- Target cells on peripheral smear
- Positive direct Coombs test
Correct Answer: Increased osmotic fragility of RBCs
Q6. The EMA (eosin-5′-maleimide) binding test is used to diagnose:
- Sickle cell disease
- Hereditary spherocytosis
- G6PD deficiency
- Iron deficiency anemia
Correct Answer: Hereditary spherocytosis
Q7. Which enzyme deficiency causes episodic hemolysis triggered by oxidant drugs and fava beans?
- Pyruvate kinase deficiency
- G6PD deficiency
- Glucokinase deficiency
- Hexokinase deficiency
Correct Answer: G6PD deficiency
Q8. Pyruvate kinase deficiency typically leads to which RBC morphology or lab feature?
- Increased 2,3-BPG and extravascular hemolysis
- Microcytosis with low ferritin
- Elevated HbA2
- Macrocytosis with hypersegmented neutrophils
Correct Answer: Increased 2,3-BPG and extravascular hemolysis
Q9. Which clinical complication is common in chronic hemolytic anemias such as hereditary spherocytosis and thalassemia?
- Splenic infarction only
- Cholelithiasis (pigment gallstones)
- Osteoporosis as the earliest finding
- Pure red cell aplasia
Correct Answer: Cholelithiasis (pigment gallstones)
Q10. The best initial diagnostic test for suspected beta-thalassemia trait in adults is:
- Serum ferritin
- Hemoglobin electrophoresis/HPLC
- Bone marrow biopsy
- Direct Coombs test
Correct Answer: Hemoglobin electrophoresis/HPLC
Q11. A newborn with alpha-thalassemia major (Hb Bart’s) typically presents with:
- Mild anemia later in childhood
- Hydrops fetalis and intrauterine death
- Iron overload at birth
- Excess HbA at birth
Correct Answer: Hydrops fetalis and intrauterine death
Q12. In thalassemia major, chronic transfusions commonly require which preventive therapy?
- Prophylactic antibiotics
- Iron chelation therapy
- Daily folic acid injection only
- High-dose vitamin C alone
Correct Answer: Iron chelation therapy
Q13. Hydroxyurea is used in sickle cell disease mainly to:
- Increase HbS production
- Increase fetal hemoglobin (HbF) and reduce vaso-occlusive crises
- Replace transfusion therapy entirely
- Cure the disease genetically
Correct Answer: Increase fetal hemoglobin (HbF) and reduce vaso-occlusive crises
Q14. Which of the following drugs is contraindicated in G6PD deficiency due to oxidative hemolysis risk?
- Paracetamol
- Primaquine
- Amoxicillin
- Furosemide
Correct Answer: Primaquine
Q15. Hereditary elliptocytosis is primarily due to defects in:
- Hemoglobin synthesis
- Red cell membrane cytoskeleton proteins (e.g., spectrin)
- Iron absorption in the gut
- Bone marrow stromal cells
Correct Answer: Red cell membrane cytoskeleton proteins (e.g., spectrin)
Q16. Which parameter differentiates thalassemia trait from iron deficiency anemia when MCV is low?
- Serum vitamin B12 level
- Red cell distribution width (RDW) is usually normal in thalassemia trait
- Direct antiglobulin test
- Serum bilirubin level
Correct Answer: Red cell distribution width (RDW) is usually normal in thalassemia trait
Q17. Which test helps confirm autoimmune hemolytic anemia and differentiate it from hereditary hemolytic anemias?
- Peripheral smear
- Direct Coombs (direct antiglobulin) test
- Hemoglobin electrophoresis
- Osmotic fragility test
Correct Answer: Direct Coombs (direct antiglobulin) test
Q18. Splenectomy is a standard treatment consideration for which hereditary anemia with marked hemolysis?
- Beta-thalassemia major only
- Hereditary spherocytosis to reduce hemolysis
- G6PD deficiency to prevent crises
- Alpha-thalassemia trait
Correct Answer: Hereditary spherocytosis to reduce hemolysis
Q19. Which finding is typical in peripheral smear of sickle cell disease?
- Howell-Jolly bodies and sickled RBCs
- Massive microcytosis without target cells
- Macro-ovalocytes predominantly
- Schistocytes without target cells
Correct Answer: Howell-Jolly bodies and sickled RBCs
Q20. A hemoglobinopathy causing an increased risk of hemolysis on exposure to oxidant stress is most likely:
- Beta-thalassemia minor
- G6PD deficiency
- Hereditary spherocytosis
- Congenital dyserythropoietic anemia
Correct Answer: G6PD deficiency
Q21. Which genetic inheritance is typical for most forms of hereditary spherocytosis?
- Autosomal dominant
- Autosomal recessive only
- X-linked recessive
- Mitochondrial inheritance
Correct Answer: Autosomal dominant
Q22. In beta-thalassemia trait, which Hb fraction is mildly elevated?
- HbS
- HbA2
- HbF dramatically elevated
- HbH
Correct Answer: HbA2
Q23. Which clinical measure is important in newborn screening for sickle cell disease?
- Serum ferritin
- Hemoglobin electrophoresis/HPLC
- Liver function tests
- Osmotic fragility
Correct Answer: Hemoglobin electrophoresis/HPLC
Q24. What is a common cause of aplastic crisis in patients with chronic hemolytic anemias like sickle cell disease?
- Parvovirus B19 infection
- Vitamin B12 deficiency
- Excess iron chelation therapy
- Surgical splenectomy
Correct Answer: Parvovirus B19 infection
Q25. Which treatment can be curative for some hereditary hemoglobinopathies?
- Folic acid supplementation
- Bone marrow/stem cell transplant
- Hydroxyurea alone
- Iron supplements
Correct Answer: Bone marrow/stem cell transplant
Q26. In hereditary spherocytosis, mean corpuscular hemoglobin concentration (MCHC) is typically:
- Low
- Normal
- Elevated
- Unreliable
Correct Answer: Elevated
Q27. HbH disease refers to which condition?
- Beta-thalassemia minor
- Alpha-thalassemia with deletion of three alpha genes leading to beta tetramers (HbH)
- Sickle cell trait with hemoglobin H
- G6PD deficiency variant named HbH
Correct Answer: Alpha-thalassemia with deletion of three alpha genes leading to beta tetramers (HbH)
Q28. In hereditary hemolytic anemia, elevated reticulocyte count indicates:
- Poor bone marrow response
- Active marrow compensation for hemolysis
- Iron deficiency
- Bone marrow failure
Correct Answer: Active marrow compensation for hemolysis
Q29. Which biochemical marker is a sensitive indicator of hemolysis?
- Elevated lactate dehydrogenase (LDH) and indirect bilirubin
- Low serum ferritin only
- High vitamin B12
- Low creatinine
Correct Answer: Elevated lactate dehydrogenase (LDH) and indirect bilirubin
Q30. Which of the following is a common pharmacologic preventive measure for young children with sickle cell disease?
- Long-term penicillin prophylaxis to prevent pneumococcal infection
- Daily aspirin to prevent crises
- High dose vitamin E only
- Routine iron supplementation
Correct Answer: Long-term penicillin prophylaxis to prevent pneumococcal infection
Q31. Which mutation type is most commonly responsible for beta-thalassemia?
- Large chromosomal deletions only
- Point mutations affecting beta-globin synthesis
- Mutations in mitochondrial DNA
- Trinucleotide repeat expansions
Correct Answer: Point mutations affecting beta-globin synthesis
Q32. Which of the following best describes extravascular hemolysis?
- Hemolysis occurring in circulation causing schistocytes
- Removal and destruction of RBCs by spleen and liver macrophages
- Autoimmune destruction by complement only
- Hemolysis due to intravascular fragmentation in DIC
Correct Answer: Removal and destruction of RBCs by spleen and liver macrophages
Q33. Which hereditary anemia is associated with decreased fluorescence on EMA binding test?
- Hereditary spherocytosis
- Sickle cell disease
- Beta-thalassemia major
- G6PD deficiency
Correct Answer: Hereditary spherocytosis
Q34. In G6PD deficiency, which laboratory feature is most commonly seen during an acute hemolytic episode?
- Elevated reticulocyte count and bite cells/heinz bodies on smear
- Profound macrocytosis with hypersegmented neutrophils
- Isolated thrombocytopenia
- Elevated serum iron only
Correct Answer: Elevated reticulocyte count and bite cells/heinz bodies on smear
Q35. Which therapeutic principle is critical when treating iron overload from repeated transfusions?
- Avoid chelation; use antibiotics
- Start iron chelation therapy (e.g., deferoxamine, deferasirox)
- Give high-dose vitamin C without chelation
- Administer erythropoietin alone
Correct Answer: Start iron chelation therapy (e.g., deferoxamine, deferasirox)
Q36. Congenital dyserythropoietic anemia is characterized by:
- Normal erythropoiesis with hemolysis only
- Ineffective erythropoiesis with morphological abnormalities in erythroblasts
- Exclusive peripheral destruction by antibodies
- Iron deficiency unresponsive to supplements
Correct Answer: Ineffective erythropoiesis with morphological abnormalities in erythroblasts
Q37. Which drug increases HbF and is therefore useful in both sickle cell disease and some thalassemias?
- Deferasirox
- Hydroxyurea
- Rituximab
- Vitamin B12
Correct Answer: Hydroxyurea
Q38. Which hemoglobin variant is identified by an abnormal migration on electrophoresis similar to HbS?
- HbC
- HbD
- HbE
- HbA2
Correct Answer: HbD
Q39. Which clinical sign suggests chronic extravascular hemolysis rather than acute intravascular hemolysis?
- Dark urine due to hemoglobinuria
- Splenomegaly and jaundice
- Renal failure as first presentation
- Severe hemoglobinuria with shock
Correct Answer: Splenomegaly and jaundice
Q40. Gene therapy approaches for hereditary hemoglobinopathies aim to:
- Remove the spleen permanently
- Correct the defective globin gene or induce HbF expression
- Increase dietary iron absorption
- Replace hydroxyurea therapy only
Correct Answer: Correct the defective globin gene or induce HbF expression
Q41. Which of the following is true about iron therapy in hereditary anemias?
- Iron should be given routinely to all patients with thalassemia major
- Iron therapy is not indicated and may be harmful in transfusion-dependent thalassemia without monitoring
- Iron supplements reverse hemolysis in sickle cell disease
- Iron loading is not a concern in chronic transfusion
Correct Answer: Iron therapy is not indicated and may be harmful in transfusion-dependent thalassemia without monitoring
Q42. Which hematologic index is typically low in thalassemia trait despite normal iron stores?
- MCV (mean corpuscular volume)
- Platelet count
- White blood cell count
- Serum ferritin
Correct Answer: MCV (mean corpuscular volume)
Q43. Which of the following is a classical peripheral smear finding in beta-thalassemia major?
- Hypochromic microcytic RBCs with target cells and nucleated RBCs
- Macrocytic ovalocytes predominantly
- Schistocytes with thrombocytopenia
- Isolated spherocytes without reticulocytosis
Correct Answer: Hypochromic microcytic RBCs with target cells and nucleated RBCs
Q44. What is the role of folic acid supplementation in hereditary hemolytic anemias?
- It is contraindicated
- Supplementation supports increased erythropoiesis and prevents megaloblastic changes
- It cures hemoglobinopathy genetically
- It causes iron overload
Correct Answer: Supplementation supports increased erythropoiesis and prevents megaloblastic changes
Q45. Which finding helps distinguish hereditary spherocytosis from autoimmune hemolytic anemia?
- Positive direct Coombs test in hereditary spherocytosis
- Negative direct Coombs test in hereditary spherocytosis
- Presence of HbS on electrophoresis
- Low MCHC exclusively in autoimmune hemolysis
Correct Answer: Negative direct Coombs test in hereditary spherocytosis
Q46. Which complication is a long-term risk in transfusion-dependent thalassemia if iron chelation is inadequate?
- Hypothyroidism, cardiomyopathy, and liver cirrhosis from iron overload
- Improved growth and fertility
- Reduced infection risk
- Spontaneous cure in adulthood
Correct Answer: Hypothyroidism, cardiomyopathy, and liver cirrhosis from iron overload
Q47. Which lab test is useful to quantify transferrin saturation and body iron load?
- Serum ferritin and transferrin saturation
- Direct Coombs test
- Hemoglobin electrophoresis only
- Osmotic fragility test
Correct Answer: Serum ferritin and transferrin saturation
Q48. Beta-thalassemia intermedia differs from major in that:
- It always requires lifelong transfusions from infancy
- It has variable severity and may not require chronic transfusions
- It presents exclusively as hydrops fetalis
- It is an X-linked disorder
Correct Answer: It has variable severity and may not require chronic transfusions
Q49. In pharmacotherapy for hereditary anemia, which drug class is used to prevent infections in asplenic patients?
- Immunosuppressants
- Vaccines and sometimes prophylactic antibiotics
- Iron chelators only
- Antifungals routinely
Correct Answer: Vaccines and sometimes prophylactic antibiotics
Q50. Which therapeutic strategy directly addresses the underlying genetic defect in hereditary hemoglobinopathies?
- Iron supplementation
- Gene therapy or allogeneic stem cell transplantation
- Folic acid alone
- Short course antibiotics during crises
Correct Answer: Gene therapy or allogeneic stem cell transplantation
