Hemophilia
Hemophilia ( 15 Questions)
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. 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.
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.
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.
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.
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.
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.