Hemophilia MCQs With Answer is a focused study tool for B.Pharm students aiming to master bleeding disorders, coagulation physiology, and targeted pharmacotherapy. This collection emphasizes Hemophilia A and B: genetics and inheritance patterns, laboratory diagnosis (aPTT, factor assays, mixing study, Bethesda assay), clinical features like hemarthrosis and intracranial bleeding, and evidence-based treatments including factor replacement, desmopressin, antifibrinolytics, and gene therapy. Topics also cover dosing (IU/kg), inhibitor development and management, recombinant versus plasma-derived products, prophylaxis strategies, and long-term complications. Clear, exam-oriented MCQs with answers will boost clinical reasoning and exam readiness. Now let’s test your knowledge with 50 MCQs on this topic.
Q1. What is the primary deficiency in Hemophilia A?
- Factor VIII deficiency (Hemophilia A)
- Factor IX deficiency (Hemophilia B)
- von Willebrand factor deficiency
- Platelet membrane receptor defect
Correct Answer: Factor VIII deficiency (Hemophilia A)
Q2. What is the usual inheritance pattern of classical hemophilia?
- X-linked recessive inheritance
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Mitochondrial inheritance
Correct Answer: X-linked recessive inheritance
Q3. Which laboratory finding is most characteristic of hemophilia?
- Isolated prolonged activated partial thromboplastin time (aPTT)
- Prolonged prothrombin time (PT)
- Thrombocytopenia
- Prolonged bleeding time
Correct Answer: Isolated prolonged activated partial thromboplastin time (aPTT)
Q4. Typical factor levels in an obligate female carrier of hemophilia are approximately:
- Approximately 50% normal factor levels
- 0% factor activity
- 100% normal factor levels
- Markedly elevated factor activity
Correct Answer: Approximately 50% normal factor levels
Q5. Severe hemophilia is defined by factor activity level below which threshold?
- <1% factor activity
- 1–5% factor activity
- 5–40% factor activity
- Above 40% factor activity
Correct Answer: <1% factor activity
Q6. The most common clinical manifestation of hemophilia is:
- Recurrent hemarthrosis (joint bleeding)
- Easy bruising of the skin only
- Gum bleeding as the sole feature
- Isolated epistaxis without other bleeding
Correct Answer: Recurrent hemarthrosis (joint bleeding)
Q7. Which drug increases endogenous factor VIII and von Willebrand factor levels?
- Desmopressin (DDAVP)
- Tranexamic acid
- Recombinant factor IX concentrate
- Aminocaproic acid
Correct Answer: Desmopressin (DDAVP)
Q8. The specific replacement therapy for Hemophilia B is:
- Factor IX concentrate (replacement therapy)
- Factor VIII concentrate
- Cryoprecipitate only
- Fresh frozen plasma only
Correct Answer: Factor IX concentrate (replacement therapy)
Q9. Dosing of factor concentrates is typically expressed in which unit?
- International Units per kilogram (IU/kg)
- Milligrams per milliliter (mg/mL)
- Micrograms per kilogram (mcg/kg)
- Units per liter (U/L)
Correct Answer: International Units per kilogram (IU/kg)
Q10. Which assay is used to quantify neutralizing inhibitors against factor VIII or IX?
- Bethesda assay
- Ristocetin cofactor assay
- Platelet aggregation test
- Fibrinogen activity assay
Correct Answer: Bethesda assay
Q11. The main consequence of developing inhibitors in hemophilia patients is:
- Neutralizing alloantibodies to factor concentrate (inhibitors)
- Increased platelet function
- Decreased bleeding tendency
- Improved response to desmopressin
Correct Answer: Neutralizing alloantibodies to factor concentrate (inhibitors)
Q12. Prophylactic factor replacement in severe hemophilia aims to maintain trough activity above:
- >1% factor activity trough
- >0.01% trough
- >10% factor activity trough
- >50% factor activity trough
Correct Answer: >1% factor activity trough
Q13. Which antifibrinolytic agent is commonly used for mucosal bleeding in hemophilia?
- Tranexamic acid
- Warfarin
- Heparin
- Fibrinolysin
Correct Answer: Tranexamic acid
Q14. If a man with hemophilia has children, which statement is correct about his daughters and sons?
- All daughters will be carriers; no affected sons
- All sons will be affected; no daughters carriers
- All children will be affected
- No children will inherit any risks
Correct Answer: All daughters will be carriers; no affected sons
Q15. Which clinical/laboratory feature helps differentiate hemophilia from von Willebrand disease?
- Normal bleeding time in hemophilia
- Marked thrombocytopenia in hemophilia
- von Willebrand disease has isolated prolonged aPTT only
- Hemophilia always has prolonged bleeding time
Correct Answer: Normal bleeding time in hemophilia
Q16. Modern gene therapy for hemophilia typically targets which organ to express the missing factor?
- Hepatocyte-directed AAV gene therapy
- Bone marrow stem cell injection
- Intramuscular plasmid injection only
- Pancreatic islet transduction
Correct Answer: Hepatocyte-directed AAV gene therapy
Q17. Which product type reduces the risk of transfusion-transmitted infections most effectively?
- Recombinant factor concentrates
- Fresh frozen plasma
- Cryoprecipitate
- Whole blood transfusion
Correct Answer: Recombinant factor concentrates
Q18. A Bethesda assay result greater than which value indicates a high-titre inhibitor?
- Greater than 5 Bethesda units
- Greater than 0.5 Bethesda units
- Greater than 50 Bethesda units
- Greater than 0.05 Bethesda units
Correct Answer: Greater than 5 Bethesda units
Q19. In a mixing study, immediate correction of prolonged aPTT suggests which cause?
- Factor deficiency
- Presence of an inhibitor
- Platelet dysfunction
- von Willebrand disease
Correct Answer: Factor deficiency
Q20. Which pattern of coagulation tests is typical in hemophilia?
- Normal prothrombin time (PT) with prolonged aPTT
- Prolonged PT with normal aPTT
- Both PT and aPTT prolonged equally
- Normal PT and aPTT always
Correct Answer: Normal prothrombin time (PT) with prolonged aPTT
Q21. One of the earliest signs of severe hemophilia in newborn males is:
- Bleeding after circumcision or heel stick
- Delayed tooth eruption
- Excessive drooling
- Jaundice unrelated to bleeding
Correct Answer: Bleeding after circumcision or heel stick
Q22. To minimize bleeding risk during routine vaccinations in hemophilia patients, which route is preferred when available?
- Subcutaneous route when available
- Large-bore intramuscular injection without cover
- Intravenous injection as routine
- Intranasal route only
Correct Answer: Subcutaneous route when available
Q23. A known adverse effect of desmopressin (DDAVP) relevant to patient safety is:
- Hyponatremia due to water retention
- Severe thrombocytopenia
- Permanent renal failure
- Hyperkalemia
Correct Answer: Hyponatremia due to water retention
Q24. Initial management of an acute hemarthrosis typically includes:
- Factor replacement and joint immobilization
- Immediate joint aspiration in all cases
- High-dose oral anticoagulants
- No treatment; observation only
Correct Answer: Factor replacement and joint immobilization
Q25. Which laboratory assay is commonly used to measure factor activity for replacement dosing?
- One-stage clotting assay (PTT-based)
- Complete blood count only
- Ristocetin cofactor assay
- Bleeding time
Correct Answer: One-stage clotting assay (PTT-based)
Q26. Typical prophylactic dosing frequency for factor VIII concentrate is:
- 3–4 times per week (every other day)
- Once monthly
- Every 6 hours indefinitely
- Once annually
Correct Answer: 3–4 times per week (every other day)
Q27. Which bleeding complication carries the highest immediate mortality risk in hemophilia?
- Intracranial hemorrhage
- Deep muscle ecchymosis
- Minor oral mucosal bleeding
- Superficial skin bruises
Correct Answer: Intracranial hemorrhage
Q28. The most definitive method for carrier detection in hemophilia is:
- Molecular genetic testing (mutation analysis)
- Platelet function testing
- Routine CBC
- Bethesda assay
Correct Answer: Molecular genetic testing (mutation analysis)
Q29. Hemophilia B is also known by which historical name?
- Factor IX deficiency (Christmas disease)
- Factor VIII deficiency (Classic hemophilia)
- von Willebrand disease type 1
- Thrombasthenia
Correct Answer: Factor IX deficiency (Christmas disease)
Q30. Desmopressin (DDAVP) is usually ineffective in which group of hemophilia A patients?
- In severe Hemophilia A with <1% factor VIII activity
- In mild Hemophilia A with 30% activity
- In von Willebrand disease type 1
- In carriers with 50% activity
Correct Answer: In severe Hemophilia A with <1% factor VIII activity
Q31. The preferred specific product for acute correction of factor VIII deficiency is:
- Factor VIII concentrate (recombinant or plasma-derived)
- Fresh frozen plasma as first-line always
- Platelet transfusion
- Oral vitamin K
Correct Answer: Factor VIII concentrate (recombinant or plasma-derived)
Q32. Which factor has a longer plasma half-life under standard replacement therapy?
- Factor IX has a longer half-life than factor VIII
- Factor VIII has a longer half-life than factor IX
- Both have identical half-lives
- Half-life does not affect dosing intervals
Correct Answer: Factor IX has a longer half-life than factor VIII
Q33. What is the principle behind immune tolerance induction (ITI) in inhibitor-positive patients?
- Regular high-dose factor administration to induce tolerance
- Permanent cessation of replacement therapy only
- Use of anticoagulants to suppress immunity
- Single low-dose infusion to neutralize inhibitors
Correct Answer: Regular high-dose factor administration to induce tolerance
Q34. When is the optimal time to measure trough factor activity to assess prophylaxis?
- Immediately before the next scheduled infusion (trough level)
- Two hours after an infusion only
- Randomly during the day without relation to dosing
- One week after stopping prophylaxis
Correct Answer: Immediately before the next scheduled infusion (trough level)
Q35. The immunoglobulin class typically responsible for neutralizing inhibitors against clotting factors is:
- IgG neutralizing antibodies
- IgM only
- IgA exclusively
- Secretory IgA
Correct Answer: IgG neutralizing antibodies
Q36. Which assay is characteristically decreased in von Willebrand disease but not in isolated hemophilia?
- Ristocetin cofactor assay decreased in vWD
- Bethesda assay decreased in vWD
- Platelet count decreased in vWD
- Serum fibrinogen decreased in vWD
Correct Answer: Ristocetin cofactor assay decreased in vWD
Q37. The mechanism of action of tranexamic acid is:
- Inhibition of plasminogen activation (antifibrinolytic)
- Activation of protein C
- Direct platelet activation
- Vitamin K antagonism
Correct Answer: Inhibition of plasminogen activation (antifibrinolytic)
Q38. The most common mutation causing severe Hemophilia A is:
- Intron 22 inversion in the F8 gene
- Large deletion of F9 gene
- Promoter mutation of vWF gene
- Triplet repeat expansion
Correct Answer: Intron 22 inversion in the F8 gene
Q39. A symptomatic female with low factor VIII activity may be explained by:
- Skewed X-chromosome inactivation (lyonization)
- Mitochondrial inheritance of F8
- Autosomal dominant F9 mutation
- Acquired B-cell lymphoma only
Correct Answer: Skewed X-chromosome inactivation (lyonization)
Q40. Which routine laboratory test is least useful for diagnosing hemophilia?
- Prothrombin time (PT)/INR
- Activated partial thromboplastin time (aPTT)
- Specific factor activity assay
- Bethesda inhibitor assay
Correct Answer: Prothrombin time (PT)/INR
Q41. For dental extraction in a hemophilia patient, an appropriate perioperative strategy includes:
- Factor replacement plus tranexamic acid mouthwash
- Delay of procedure indefinitely
- Oral anticoagulants to prevent clotting
- No local hemostatic measures required
Correct Answer: Factor replacement plus tranexamic acid mouthwash
Q42. What is the usual route of administration for factor concentrates?
- Intravenous administration
- Oral administration
- Intramuscular injection
- Subcutaneous injection
Correct Answer: Intravenous administration
Q43. A chronic long-term musculoskeletal complication of repeated joint bleeding is:
- Chronic hemophilic arthropathy
- Osteomyelitis always
- Rhabdomyolysis as primary outcome
- Metastatic bone disease
Correct Answer: Chronic hemophilic arthropathy
Q44. In patients with high-titre inhibitors and active bleeding, which agent is used as a bypassing therapy?
- Recombinant activated factor VII (rFVIIa)
- Desmopressin (DDAVP)
- Oral tranexamic acid only
- Platelet transfusion routinely
Correct Answer: Recombinant activated factor VII (rFVIIa)
Q45. Hemophilia patients receiving regular blood-derived products should be immunized against which infection?
- Hepatitis B vaccination
- Malaria vaccination
- Rabies vaccination routinely
- No vaccinations are recommended
Correct Answer: Hepatitis B vaccination
Q46. How do factor VIII levels typically change during pregnancy in carrier women?
- Factor VIII levels increase during pregnancy
- Factor VIII levels fall dramatically in pregnancy
- Factor VIII levels remain unchanged throughout pregnancy
- Factor VIII becomes undetectable during pregnancy
Correct Answer: Factor VIII levels increase during pregnancy
Q47. Which modification of factor concentrates is used to extend their plasma half-life?
- PEGylation of factor molecule
- Removal of glycosylation sites
- Denaturation by heat treatment
- Precipitation with ethanol
Correct Answer: PEGylation of factor molecule
Q48. The principal mechanism of action of desmopressin in hemophilia management is:
- Stimulates endothelial release of von Willebrand factor and factor VIII
- Directly replaces factor VIII in plasma
- Inhibits platelet aggregation
- Blocks fibrin formation
Correct Answer: Stimulates endothelial release of von Willebrand factor and factor VIII
Q49. Typical platelet findings in isolated congenital hemophilia are:
- Normal platelet count and platelet function
- Marked thrombocytopenia with dysfunction
- Giant platelets on smear only
- Absent platelets
Correct Answer: Normal platelet count and platelet function
Q50. Emergency management of suspected intracranial hemorrhage in a hemophilia patient should prioritize:
- Immediate factor replacement and neurosurgical evaluation
- Oral analgesics and outpatient follow-up
- Delay therapy until lab confirmation only
- Administration of aspirin to reduce inflammation
Correct Answer: Immediate factor replacement and neurosurgical evaluation
