Hemophilia A Quiz
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Questions and Answers

What is the primary reason why individuals with Hemophilia A experience frequent and spontaneous bleeding?

  • Deficiency of Factor VIII coagulant activity. (correct)
  • Deficiency of Factor IX coagulant activity.
  • Excessive production of fibrinogen.
  • Deficiency of von Willebrand factor.

    • Which of the following statements accurately describes the inheritance pattern of Hemophilia A?

  • Autosomal recessive inheritance, affecting both males and females equally.
  • Autosomal dominant inheritance, with males and females equally affected.
  • X-linked recessive inheritance, affecting primarily males. (correct)
  • X-linked dominant inheritance, affecting primarily females.

    • What is the relationship between the severity of Hemophilia A and the level of Factor VIII in the blood?

  • Lower Factor VIII levels correlate with more severe bleeding. (correct)
  • Higher Factor VIII levels correlate with more severe bleeding.
  • No correlation; severity is unrelated to Factor VIII levels.
  • Factor VIII levels are irrelevant in determining bleeding severity.

    • Which of the following is a potential complication of poorly managed hematomas in Hemophilia A patients?

    <p>Development of hemophilic pseudo tumor. (D)</p> Signup and view all the answers

    What is the most common symptom observed in infants with Hemophilia A?

    <p>Excessive bruising. (B)</p> Signup and view all the answers

    Which of the following laboratory tests is considered the most sensitive in detecting Hemophilia A?

    <p>Partial Thromboplastin Time (PTT). (D)</p> Signup and view all the answers

    Which of the following statements regarding clinical features of Hemophilia A is FALSE?

    <p>Hemophilia A is clinically indistinguishable from Hemophilia B. (C)</p> Signup and view all the answers

    What is the significance of the 'prothrombin time' (PT) in Hemophilia A?

    <p>PT is unaffected in Hemophilia A, as it primarily measures the intrinsic coagulation pathway. (B)</p> Signup and view all the answers

    In a patient with a prolonged PTT, what investigation should be performed next?

    <p>Mixing study (A)</p> Signup and view all the answers

    What is the most accurate method for carrier detection of Hemophilia B in a newborn?

    <p>Measuring factor IX levels in umbilical cord blood (A)</p> Signup and view all the answers

    Which of the following is NOT a potential cause of acquired haemophilia A?

    <p>Factor VIII deficiency (D)</p> Signup and view all the answers

    What is the primary mechanism of action of desmopressin in treating hemophilia A?

    <p>Stimulating release of stored factor VIII and von Willebrand factor (A)</p> Signup and view all the answers

    Which of the following statements regarding Hemophilia B is TRUE?

    <p>Hemophilia B is distinguished from Hemophilia A by specific coagulation assays (D)</p> Signup and view all the answers

    Prophylactic treatment for hemophilia can have what positive impact on patients?

    <p>Reduce the frequency of muscle bleeds (B)</p> Signup and view all the answers

    What is the recommended gestational period for antenatal diagnosis of Hemophilia A through FVIII analysis in fetal blood?

    <p>16-20 weeks (A)</p> Signup and view all the answers

    What is the main difference between hemophilia A and hemophilia B?

    <p>Hemophilia B is caused by a deficiency in factor IX, while hemophilia A is caused by a deficiency in factor VIII (B)</p> Signup and view all the answers

    Which of the following statements is TRUE about Hemophilia B?

    <p>Hemophilia B is caused by a gene mutation, but not always due to inheritance, it can occur as a spontaneous mutation. (B)</p> Signup and view all the answers

    In Hemophilia B, which of the following laboratory findings are typically abnormal?

    <p>Activated Partial Thromboplastin Time (APTT) and Factor IX (FIX) clotting assay (A)</p> Signup and view all the answers

    Which of the following statements is TRUE about Von Willebrand Disease (VWD)?

    <p>VWD is caused by a deficiency or abnormality in von Willebrand factor (vWF), a large protein essential for blood clotting. (B), VWD is an autosomal dominant genetic disorder. (C)</p> Signup and view all the answers

    Which type of VWD is associated with the absence or severely reduced levels of vWF?

    <p>Type 3 (E)</p> Signup and view all the answers

    What is the primary function of von Willebrand factor (vWF)?

    <p>It promotes platelet aggregation and adhesion to damaged endothelium. (E)</p> Signup and view all the answers

    Which of the following laboratory findings is a common characteristic of VWD, regardless of the type?

    <p>Prolonged bleeding time (E)</p> Signup and view all the answers

    A patient with VWD Type 2A exhibits a unique characteristic, which is _______________.

    <p>Loss of high molecular weight (HMW) multimers of vWF, resulting in a smaller size and an inability to help with platelet aggregation (B)</p> Signup and view all the answers

    A patient presents with a low vWF level and a prolonged bleeding time, what is the MOST appropriate laboratory test to assess the function of vWF?

    <p>vWF:RCo assay which measures the functional activity of vWF in plasma. (E)</p> Signup and view all the answers

    Which treatment is specifically indicated for Type 1 von Willebrand’s disease?

    <p>Desmopressin (D)</p> Signup and view all the answers

    In von Willebrand disease, what type of bleeding is most commonly associated?

    <p>Mucosal bleeding (A)</p> Signup and view all the answers

    What is a common laboratory finding in a newborn with hemorrhagic disease due to vitamin K deficiency?

    <p>Prolonged PT and aPTT (A)</p> Signup and view all the answers

    What is the primary cause of vitamin K deficiency-related bleeding disorders in adults?

    <p>Dietary deficiencies (A)</p> Signup and view all the answers

    Which statement about the differences between Hemophilia A and von Willebrand disease is true?

    <p>Von Willebrand disease is less likely to cause joint bleeds. (D)</p> Signup and view all the answers

    Which vitamin K dependent factor is not implicated in the coagulopathy associated with warfarin treatment?

    <p>Factor IV (C)</p> Signup and view all the answers

    What is the typical presentation of vitamin K deficiency in newborns?

    <p>Hemorrhagic disease (A)</p> Signup and view all the answers

    What is the role of ristocetin in relation to von Willebrand factor?

    <p>Promotes VWF binding to platelets (A)</p> Signup and view all the answers

    What vitamin is administered orally for prophylaxis in hemostasis disorders?

    <p>Vitamin K (C)</p> Signup and view all the answers

    Which coagulation factors are affected by impaired absorption of Vitamin K due to biliary obstruction?

    <p>Factors II, VII, IX, X (C)</p> Signup and view all the answers

    What condition may lead to thrombocytopenia due to decreased production from the liver?

    <p>Thrombopoietin deficiency (C)</p> Signup and view all the answers

    Which of the following is NOT a potential cause of disseminated intravascular coagulation (DIC)?

    <p>Iron overload (D)</p> Signup and view all the answers

    What lab finding is typically associated with disseminated intravascular coagulation (DIC)?

    <p>Increased D-dimers (D)</p> Signup and view all the answers

    What is one of the main pathophysiological mechanisms leading to DIC?

    <p>Widespread intravascular deposition of fibrin (A)</p> Signup and view all the answers

    What treatment option is NOT typically employed for managing DIC?

    <p>Platelet transfusion (C)</p> Signup and view all the answers

    Which factor is NOT synthesized in the liver and can lead to complications in hemostasis when impaired?

    <p>Factor VIII (B)</p> Signup and view all the answers

    Flashcards

    Hemophilia A

    A bleeding disorder caused by deficiency of factor VIII (FVIII).

    Hemophilia B

    A bleeding disorder caused by deficiency of factor IX (FIX).

    von Willebrand's Disease

    An inherited disorder causing a lack of von Willebrand factor (vWf).

    Inheritance pattern of Hemophilia A

    Hemophilia A is transmitted via recessive X-linked inheritance affecting males predominantly.

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    Clinical features of Hemophilia

    Common symptoms include spontaneous bleeding, joint bleeds, and easy bruising.

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    Hemarthrosis

    Bleeding into joints, a frequent symptom of Hemophilia leading to pain and disability.

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    Laboratory tests for Hemophilia

    Tests include complete blood count, prothrombin time (PT), PT time, and bleeding time (BT).

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    Severity of Hemophilia A

    Directly related to the level of factor VIII in the blood; lower levels result in more severe bleeding.

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    Prolonged PTT in Hemophilia

    In hemophilia A and B, PTT is prolonged due to intrinsic pathway disruption.

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    Mixing Study

    A test done after prolonged PTT to assess for factor deficiency; PTT normalizes if deficiency is present.

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    Factor VIII Diagnosis

    Diagnosis of hemophilia often requires checking factor VIII levels; under 40% points to hemophilia.

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    Carrier Detection Tests

    Tests like measuring factor VIII and using DNA probes detect carriers of hemophilia.

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    Desmopressin

    A synthetic vasopressin analogue that boosts FVIII and vWF plasma levels.

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    Antenatal Diagnosis

    Testing for FVIII in fetal blood via ultrasound-guided aspiration at 16-20 weeks gestation.

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    Acquired Hemophilia A

    A non-genetic form of hemophilia caused by autoantibodies against factor VIII.

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    Factor IX and Hemophilia B

    Hemophilia B, or Christmas disease, involves factor IX deficiency; diagnosing with specific coagulation assays.

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    Laboratory findings in Hemophilia B

    Includes prolonged APTT and reduced FIX clotting assay, with normal PT and bleeding time.

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    Von Willebrand’s Disease (vWD)

    A bleeding disorder caused by abnormalities of von Willebrand factor (vWF).

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    Types of Von Willebrand's Disease

    Includes Type 1 (reduced vWF), Type 2 (abnormal vWF), and Type 3 (very little vWF).

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    Role of von Willebrand Factor (vWF)

    Promotes platelet adhesion and protects FVIII from destruction.

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    Symptoms of vWD

    Includes mucosal bleeding (nose/gum), bleeding after dental work, and post-traumatic hemorrhage.

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    Laboratory tests for vWD

    Tests include vWF antigen concentration (vWF:Ag) and its functional ability (vWF:RCo).

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    Hemostatic tests findings in vWD

    Prolonged bleeding time, low FVIII, and defective platelet aggregation are noted.

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    Vitamin K Prophylaxis

    Oral vitamin K is used to prevent bleeding disorders related to coagulation deficiencies.

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    Coagulation Factors

    Key proteins synthesized in the liver essential for blood clotting; include factors II, VII, IX, X.

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    Thrombocytopenia

    A condition characterized by low platelet count, often resulting from decreased thrombopoietin production in liver disease.

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    DIC (Disseminated Intravascular Coagulation)

    A serious condition with widespread fibrin deposition in blood vessels, consuming clotting factors and platelets.

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    DIC Causes

    Triggers include amniotic fluid embolism, liver disease, and infections that damage blood vessels.

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    Laboratory Findings in DIC

    Indicators include low platelet counts, prolonged TT, PT, APTT, and increased D-dimers in serum.

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    Fibrinogen Dysfibrinogenemia

    A functional abnormality of fibrinogen leading to coagulation problems in liver disease.

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    DIC Treatment Options

    Standards include fresh frozen plasma and RBC transfusions to replenish clotting factors and platelets.

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    Ristocetin

    An antibiotic that promotes binding of von Willebrand factor (vWf) to platelets.

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    Von Willebrand Factor (vWf)

    A protein that helps platelets stick to blood vessel walls, promoting platelet aggregation.

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    Treatment for Type 1 vWD

    Desmopressin is used to treat Type 1 von Willebrand's disease.

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    Symptoms of Hemophilia A

    Common symptoms include deep tissue bleeding and musculoskeletal bleeding.

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    Symptoms of von Willebrand's Disease

    Common symptoms include mucosal bleeding like nosebleeds and gum bleeds.

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    Vitamin K Deficiency

    A condition caused by inadequate intake, malabsorption, or anticoagulants like warfarin leading to bleeding disorders.

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    Hemorrhagic Disease of the Newborn

    A vitamin K deficiency in newborns causing bleeding due to immature liver and lack of gut bacteria.

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    Lab findings in Vitamin K Deficiency

    Prolonged PT and aPTT with a normal platelet count and fibrinogen.

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    Study Notes

    Coagulation Disorders

    • Coagulation disorders are conditions affecting the blood's ability to clot properly.

    Inherited Coagulation Disorders: Overview

    • Hemophilia:
      • Hemophilia A – deficient factor VIII.
      • Hemophilia B – deficient factor IX.
    • von Willebrand's Disease:
      • Types 1-3 – lack/inadequate production of von Willebrand factor (vWF).

    Hemophilia

    • Also known as "love of bleeding".
    • Bleeding manifestations of both Hemophilia A and B are indistinguishable clinically.
    • Some infants are asymptomatic until experiencing trauma.
    • Bruising can occur easily in early childhood.
    • Spontaneous bleeding commonly affects deep tissues (joints, muscles, soft tissues).
    • Life-threatening bleeding can result from trauma or surgery.
    • Long-term bleeding problems can be a consequence.

    Hemophilia A

    • Bleeding due to a deficiency in factor VIII coagulant activity.
    • Bleeding severity is related to factor VIII blood levels
    • Low levels of factor VIII (less than 1 iu/dL)
    • Common bleeding complications include frequent joint or muscle bleeding.
    • X-linked recessive Inheritance. Males are affected, females are carriers.
    • Mutation/absence of factor VIII gene.

    Hemophilia B

    • Inheritance and clinical features are similar to Hemophilia A.
    • Factor IX deficiency.
    • Distinguishable from Hemophilia A specifically by coagulation assays.
      • Incidence - 1/5 of Hemophilia A.
      • Carriers and prenatal diagnosis are similar to Hemophilia A.
      • Factor IX levels can be low at birth, taking approximately six months to reach normal levels, thereby impacting umbilical cord blood sampling.

    Clinical Features of Hemophilia A

    • Infants may develop excess joint and soft tissue bleeds when becoming more active.
    • Prolonged bleeding can occur after dental extractions.
    • Recurrent and painful joint bleeds.
    • Poorly treated hematomas can lead to joint deformity and disablement during activities like walking.
    • Hemophilic pseudo-tumors are rare but significant complications, characterized by progressive cystic swelling in muscles or bones due to repeated bleeding.
    • Hematuria.
    • Gastrointestinal bleeding.

    Recurrent Hemarthrosis

    • Can cause joint deformity and disability.

    Severity of Hemophilia A

    • This relates to factor VIII levels in the blood.
      • Severe – Factor VIII level 0-1 iu/dL: spontaneous bleeding, severe bleeding.
      • Moderate – Factor VIII level 2-5 iu/dL: few bleeds, hemarthroses, mainly traumatic.
      • Mild – Factor VIII level 5-30 iu/dL: post-traumatic, post-surgical, post-dental extraction bleeds; few occurrences.

    Coagulation Pathway

    • Intrinsic pathway (aPTT).
    • Extrinsic pathway (PT).
    • Common pathway.

    Laboratory Investigations (Hemostasis Tests) for HA

    • Includes:
      • Complete blood count (CBC).
      • Prothrombin time (PT).
      • Partial thromboplastin time (PTT).
      • Bleeding time (BT).
    • In Hemophilia A and B:
      • PTT is prolonged, while PT and BT are normal.
    • Mixing studies are essential if PTT is prolonged to detect factor deficiencies.
    • Factor VIII activity levels below 40% of normal.
    • Molecular genotyping confirms diagnosis.

    Other Laboratory Investigation: Carrier Detection and Antenatal Diagnosis

    • Measuring plasma factor VIII levels.
    • DNA probes to detect mutations in carriers.
    • Fetal DNA analysis using 8-10 weeks gestation biopsies.
    • Antenatal diagnosis using fetal blood samples at 16-20 weeks gestation through ultrasound-guided needle aspiration.

    Treatments

    • Factor VIII replacement therapy using recombinant factor or frozen plasma concentrate.
    • Desmopressin – a synthetic vasopressin analogue that stimulates FVIII and vWF release from endothelial cells.
    • Prophylactic treatments with stored factor VIII at home can help reduce cerebral and muscle bleeds, hospitalizations, and improve patients' quality of life.
    • Social and physiological care.

    Non-Genetic Form of Hemophilia A

    • Acquired by autoantibodies against factor VIII.
    • Associated with cancers, autoimmune disorders, or pregnancy.

    von Willebrand's Disease

    • Abnormalities due to either reduced levels or abnormal vWF function via point mutations or major deletions.
    • vWF is a large protein (300 kDa) forming multimers.
    • Autosomal dominant inheritance
    • Typically involves mucous membrane bleeding (nose, gum bleeding), bleeding after dental extractions, and post-traumatic hemorrhage.
    • Variable severity depending on the type of vWD.
    • vWF promotes platelet adhesion to damaged endothelium and subsequent aggregation.
    • Acts as a carrier for factor VIII, preventing premature destruction of factor VIII, thus reducing factor VIII in vWD disease.
    • Three main types:
      • Type 1 – Reduced vWF levels.
      • Type 2 – Abnormal vWF protein function.
      • Type 3 – Very low or no vWF levels, most severe.
      • Type 2 sub-types (2A, 2B,2M, 2N) with specific malfunctions and consequences.
    • Laboratory findings include prolonged bleeding time, low factor VIII, and prolonged aPTT. Low vWF, defective platelet aggregation.

    Laboratory Findings in Hemostatic Tests for vWD

    - Prolonged bleeding time
- Low factor VIII
- Prolonged aPTT
- Low vWF
- Defective platelet aggregation
- Normal platelet count (mostly, except in type 2B)

    Specialized Laboratory Investigations for vWF

    • vWF:Ag (immunoassay) – Measures the concentration of vWF protein in plasma.
    • vWF:RCo (functional assay) – Measures vWF interaction with normal platelets.

    Treatments for vWD

    • Antifibrinolytic agents (type 2B).
    • Desmopressin (Type 1 vWD).
    • Factor VIII and vWF infusions (very low vWF levels).

    Hemophilia A vs. vWD Differences

    • Gender: Hemophilia A mostly affects males, while vWD affects both genders equally.
    • Bleeding symptoms: Hemophilia A commonly causes deep tissue bleeding (joints, internal organs), whereas vWD predominantly causes mucosal bleeding (nose, mouth, gums), and less often deep tissue bleeding.

    Acquired Coagulation

    • More common than inherited disorders.
    • Involves multiple coagulation factor deficiencies.

    Vitamin K Deficiency

    • Causes: Inadequate diet, malabsorption, and inhibition by drugs (e.g., warfarin).
    • Effects: Decreased functional activity of factors II, VII, IX, and X and proteins C and S, possibly leading to hemorrhagic disease of the newborn.

    Hemorrhagic Disease of the Newborn

    • Vitamin K deficiency due to:
      • Immature liver (incomplete absorption).
      • Lack of gut bacteria (synthesis impairment).
      • Low breast milk content Vitamin K
      • Leads to Hemorrhage.
    • Laboratory findings:
      • Prolonged PT and aPTT.
      • Normal platelet count and fibrinogen.
      • Deficient vitamin K-dependent clotting factors (II, VII, IX, X).
    • Treatments:
      • Vitamin K supplementation.

    Vitamin K Deficiency in Liver Disease

    • Due to obstructive jaundice, pancreatic, or small bowel disease.
    • Prolonged PT and aPTT.
    • Normal platelet count and fibrinogen.
    • Deficient vitamin K-dependent clotting factors (II, VII, IX, X).
    • Treatment: Oral Vitamin K.

    Hemostasis Disorders in Liver Disease

    • Impaired vitamin K absorption.
    • Reduced synthesis of coagulation factors.
    • Fibrinogen synthesis abnormalities (dysfibrinogenaemia).
    • Thrombocytopenia (reduced thrombopoietin).
    • Increased coagulation inhibitors.
    • Disseminated intravascular coagulation (DIC)

    Liver Disease (Causes)

    • Biliary obstruction – Impaired vitamin K absorption and reduced coagulation factor synthesis.
    • Severe hepatocellular disease – Abnormalities in fibrinogen synthesis (dysfibrinogenaemia), reduced thrombopoietin production leading to thrombocytopenia, and DIC.

    Disseminated Intravascular Coagulation (DIC)

    • Widespread fibrin deposition within blood vessels, excessive consumption of coagulation factors, and platelets.
    • Result of various disorders releasing procoagulants, injuring endothelium, and initiating coagulation pathways.
    • Various causes of procoagulants release can include:
      • Amniotic fluid embolism
      • Liver disease
      • Placental separation
      • Cancer cells
      • Snake bites
      • Endothelial injuries
      • Infections (immune responses/vasculitis)
      • Severe burns
    • Laboratory findings include:
      • Low platelet counts
      • Prolonged PT, aPTT, and TT
      • Elevated D-dimer or fibrin degradation products (FDPs).
      • Hemolytic anemia and red blood cell (RBC) fragmentation.
    • Treatments include:
      • Fresh frozen plasma or plasma concentrates.
      • Red blood cell (RBC) transfusions.
      • Antithrombin and protein C supplementation.

    Coagulation Deficiency Caused by Antibodies

    • Alloantibodies to factor VIII (5-10% hemophilia cases).
    • Autoimmune diseases like SLE (Lupus anticoagulant).
    • Treatment options:
      • Immunosuppression
      • Factor replacement.

    Massive Transfusion Syndrome

    • Reduced platelets and coagulation factors due to dilution.
    • 24-hour blood storage at 4°C can impair platelet function and counts.
    • Some patients have pre-existing bleeding disorders.

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    Description

    Test your knowledge about Hemophilia A, its causes, inheritance patterns, and complications. This quiz covers key clinical features, laboratory tests, and significance of bleeding disorders associated with Hemophilia A.

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