A newborn male has severe bleeding after circumcision, resulting in the need for a blood transfusion. You are called to consult on this child, and you diagnose him with severe hemophilia A. Upon taking a family history, you note that no other family members have hemophilia, other bleeding disorders, or a bleeding diathesis. Which of the following is the most likely outcome of genotyping the Factor VIII gene?

Correct Answer: C

Rationale: The correct answer is C: An inversion mutation in the F8 gene will be identified. In hemophilia A, around 50% of cases are due to large intragenic inversions involving the Factor VIII gene. In this scenario, since there is no family history of hemophilia or other bleeding disorders, the most likely genetic cause is an inversion mutation in the F8 gene. This type of mutation is not dependent on a family history and can occur spontaneously. Missense mutations (choice B) and nonsense mutations (choice D) are less common in hemophilia A and are not the typical genetic abnormalities associated with this condition. Choice A is incorrect because the absence of a family history does not rule out the possibility of a genetic mutation.

Correct Answer: C

Rationale: The correct answer is C: TMPRSS6. Mutations in TMPRSS6 gene are associated with IRIDA. TMPRSS6 encodes matriptase-2, a key negative regulator of hepcidin, a hormone that controls iron absorption. Mutations in TMPRSS6 lead to impaired hepcidin regulation, resulting in reduced iron absorption and subsequent iron deficiency anemia. Choice A: TFR2 mutations are associated with hereditary hemochromatosis, not IRIDA. Choice B: H63D mutation in HFE gene is also associated with hereditary hemochromatosis, not IRIDA. Choice D: EPOR mutations are associated with congenital erythrocytosis, not IRIDA.

Correct Answer: B

Rationale: The correct answer is B - Multiple petechiae and large bruises. This finding indicates potential bleeding issues or clotting disorders, which are serious hematologic health problems. Petechiae and bruises may suggest thrombocytopenia or other underlying conditions. Reporting this to the primary health care provider is crucial for further evaluation and management. A: Poor skin turgor on both forearms - Indicates dehydration, not necessarily a hematologic issue. C: Dry, flaky skin on arms and legs - Suggests a skin condition, not directly related to hematologic problems. D: Decreased body hair distribution - More indicative of endocrine or nutritional issues, not specific to hematologic health problems.

Correct Answer: A

Rationale: The correct answer is A: Assess the client's fears and coping mechanisms. This is the most appropriate action because it allows the nurse to understand the client's specific anxieties and provide personalized support. By assessing the client's fears and coping mechanisms, the nurse can address any concerns and implement tailored strategies to help the client feel more comfortable. Choice B is incorrect because simply reassuring the client may not be effective in alleviating their anxiety. Choice C is incorrect as sedating the client should only be considered if other interventions are ineffective. Choice D is incorrect because bone marrow aspiration and biopsy are typically done with local anesthesia, not general anesthesia, so telling the client they will be asleep would be misleading.

Correct Answer: A

Rationale: The correct answer is A: Thrombosis. Thrombotic thrombocytopenic purpura (TTP) is characterized by microangiopathic hemolytic anemia and thrombocytopenia, not thrombosis. In TTP, there is excessive platelet aggregation leading to microthrombi formation in small blood vessels, causing hemolysis and thrombocytopenia. Neurologic deficits are also common due to microvascular ischemia. Thrombosis is not a typical feature of TTP and is more commonly associated with conditions like deep vein thrombosis or pulmonary embolism. Thrombosis is not a hallmark of TTP, making choice A the correct answer.