Thrombophilia and Blood Clotting Disorders

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What is the primary result of genetic mutations associated with thrombophilia?

Increased risk of autoimmune disorders

Decreased risk of genetic mutations

Increased risk of blood clot dissolution

Increased risk of venous or arterial thrombosis (correct)

What is the mode of inheritance of the syndrome associated with iron-deficiency anemia due to chronic blood loss?

Mitochondrial inheritance

X-linked recessive

Heterogeneous autosomal dominant (correct)

Autosomal recessive

What is the typical pattern of inheritance for inherited thrombophilia?

Mitochondrial

X-linked

Autosomal recessive

Autosomal dominant (correct)

What is Age-Related Macular Degeneration (AMD)?

A progressive eye condition Signup and view all the answers

What is the result of a Factor V Leiden mutation in thrombophilia?

Factor V becomes resistant to inactivation by protein C Signup and view all the answers

Which of the following genetic mutations is associated with increased levels of prothrombin?

Prothrombin gene mutation Signup and view all the answers

What is the difference between inherited and acquired thrombophilia?

Inherited thrombophilia is passed down from parents, while acquired thrombophilia develops later in life Signup and view all the answers

What is the primary function of anticoagulant proteins such as protein C, protein S, and antithrombin?

To inhibit the activity of clotting factors Signup and view all the answers

What is the name of the condition that occurs when blood clots form in the deep veins of the legs or pelvis?

Deep vein thrombosis Signup and view all the answers

What is a symptom of pulmonary embolism?

Sudden shortness of breath, chest pain, or coughing up blood Signup and view all the answers

What is the underlying cause of thrombophilia?

Genetic mutations that affect the blood coagulation system Signup and view all the answers

What is the effect of thrombophilia on the balance between clot formation and dissolution?

It disrupts the balance between clot formation and dissolution Signup and view all the answers

What is the genetic basis of hemophilia B?

Mutations in the F9 gene on the X chromosome Signup and view all the answers

What is the role of factor IX in the coagulation cascade?

Activating factor X to factor Xa Signup and view all the answers

What is the outcome of deficient or dysfunctional factor IX in hemophilia B?

Impaired thrombin generation and fibrin clot formation Signup and view all the answers

What is the characteristic of hemophilia B?

Spontaneous bleeding into joints and muscles, and excessive bleeding following surgeries Signup and view all the answers

What is the role of factor VIII in the coagulation cascade?

Forming the tenase complex Signup and view all the answers

What is the genetic disorder characterized by deficient or defective blood clotting factor VIII?

Hemophilia A Signup and view all the answers