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(Select all that apply):
A nurse is educating a group of clients with hemophilia about diagnostic evaluation.
Which tests are typically used to diagnose hemophilia?

Genetic testing for the F8 or F9 gene mutations.

Prothrombin time (PT)

Partial thromboplastin time (PTT)

Platelet count.

Fibrinogen levels.

Answer and Explanation

Correct Answer : A,C,E

Choice A rationale:

Genetic testing for the F8 or F9 gene mutations.

Rationale: Genetic testing for mutations in the F8 (Factor VIII) or F9 (Factor IX) genes is a critical diagnostic evaluation for hemophilia.

Hemophilia A is caused by mutations in the F8 gene, while hemophilia B is caused by mutations in the F9 gene.

Choice B rationale:

Prothrombin time (PT)

Rationale: PT is not typically used to diagnose hemophilia.

It primarily evaluates the extrinsic and common coagulation pathways, which are not directly related to hemophilia, which is a disorder of the intrinsic coagulation pathway.

Choice C rationale:

Partial thromboplastin time (PTT)

Rationale: PTT is one of the key tests used to diagnose hemophilia.

It assesses the intrinsic coagulation pathway, and prolonged PTT results may indicate a bleeding disorder, including hemophilia.

Choice D rationale:

Platelet count.

Rationale: Platelet count is not a specific test for diagnosing hemophilia.

Hemophilia is a deficiency in clotting factors, not a platelet disorder.

Platelet counts are typically normal in individuals with hemophilia.

Choice E rationale:

Fibrinogen levels.

Rationale: Fibrinogen levels are not typically used to diagnose hemophilia.

Hemophilia is characterized by deficiencies in specific clotting factors (Factor VIII or Factor IX), and fibrinogen levels are not directly related to these factors.

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Correct Answer is A

Explanation

Choice A rationale:

Hemophilia A is indeed caused by a mutation in the F8 gene, which encodes factor VIII.

Factor VIII is essential for blood clotting, and mutations in this gene lead to a deficiency or dysfunction of factor VIII, resulting in hemophilia A.

This response provides accurate information about the cause of the condition.

Choice B rationale:

Hemophilia A is not caused by a mutation in the F9 gene, which encodes factor IX.

Factor IX deficiency is associated with hemophilia B, not hemophilia A.

This statement is incorrect.

Choice C rationale:

Hemophilia A is not caused by a mutation in the Y chromosome.

As mentioned earlier, it is caused by a mutation in the F8 gene on the X chromosome.

This statement is incorrect.

Choice D rationale:

Hemophilia A is not caused by a deficiency of vitamin K.

Vitamin K deficiency can lead to bleeding disorders, but it is not the cause of hemophilia A.

This statement is incorrect.

A. Desmopressin acetate (DDAVP) B. Factor VIII concentrates. C. Tranexamic acid. D. Gene therapy.

Correct Answer is A

Explanation

Choice A rationale:

Desmopressin acetate (DDAVP) is a medication used to stimulate the release of factor VIII and von Willebrand factor from endothelial cells.

It is particularly effective in patients with mild to moderate hemophilia A who have a functional von Willebrand factor.

DDAVP works by promoting the release of stored clotting factors from the endothelium, temporarily increasing their levels in the bloodstream.

This medication is administered intranasally, subcutaneously, intravenously, or orally, making it a versatile option for treatment in different clinical settings.

Choice B rationale:

Factor VIII concentrates are used for the replacement of factor VIII in patients with hemophilia A but do not stimulate the release of factor VIII and von Willebrand factor from endothelial cells.

Factor VIII concentrates are typically administered intravenously to replace the deficient clotting factor.

Choice C rationale:

Tranexamic acid is an antifibrinolytic agent used to prevent the breakdown of fibrin clots.

While it can help in managing bleeding episodes in patients with hemophilia, it does not stimulate the release of factor VIII or von Willebrand factor from endothelial cells.

Choice D rationale:

Gene therapy is an emerging treatment approach for hemophilia, but it does not stimulate the release of factor VIII and von Willebrand factor from endothelial cells.

Gene therapy aims to provide a long-term solution by introducing functional clotting factor genes into the patient's body.

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(Select all that apply):
A nurse is educating a group of clients with hemophilia about diagnostic evaluation.
Which tests are typically used to diagnose hemophilia?