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, about 50% of cases result from inversion mutations in the F8 gene. In this case, since there is no family history of hemophilia or other bleeding disorders, the most likely scenario is a de novo genetic mutation, such as an inversion mutation. This type of mutation can occur spontaneously and is not inherited from parents. Therefore, genotyping the Factor VIII gene in this newborn male with severe hemophilia A is likely to reveal an inversion mutation as the underlying genetic cause. Choice A is incorrect because the absence of a family history does not rule out the presence of a de novo mutation. Choice B (missense mutation) and Choice D (nonsense mutation) are less likely in hemophilia A compared to inversion mutations. Missense and nonsense mutations are more commonly associated with other genetic conditions or types of hemophilia.

Correct Answer: C

Rationale: Correct Answer: C (TMPRSS6) Rationale: 1. TMPRSS6 gene encodes matriptase-2, a negative regulator of hepcidin, which controls iron absorption. 2. Mutations in TMPRSS6 lead to elevated hepcidin levels, causing iron-refractory iron deficiency anemia. 3. TFR2, H63D, and EPOR are not directly involved in hepcidin regulation or iron absorption. Summary: A (TFR2), B (H63D), and D (EPOR) are not associated with the pathophysiology of IRIDA, which is primarily linked to mutations in the TMPRSS6 gene affecting hepcidin regulation and iron absorption.

Correct Answer: B

Rationale: The correct answer is B, multiple petechiae and large bruises. This finding is indicative of potential hematologic health problems such as thrombocytopenia or clotting disorders, which can be serious and require immediate medical attention. Petechiae are small, pinpoint hemorrhages under the skin, and large bruises suggest abnormal bleeding. Poor skin turgor (choice A) is more indicative of dehydration. Dry, flaky skin (choice C) may be related to skin conditions or inadequate hydration. Decreased body hair distribution (choice D) could be related to hormonal imbalances or aging, but it is not as concerning as signs of abnormal bleeding.

Correct Answer: A

Rationale: The correct answer is A because assessing the client's fears and coping mechanisms allows the nurse to provide individualized support and interventions to address the client's anxiety effectively. By understanding the client's specific concerns, the nurse can provide tailored information, emotional support, and coping strategies to help the client feel more comfortable during the procedure. Option B is incorrect as simply reassuring the client may not address the underlying anxieties and fears. Option C is inappropriate as sedation should only be used if absolutely necessary and after other non-pharmacological interventions have been exhausted. Option D is incorrect because bone marrow aspiration and biopsy are typically performed with local anesthesia, so the client will not be asleep during the procedure.

Correct Answer: A

Rationale: Step-by-step rationale for why choice A is correct: 1. Thrombotic thrombocytopenic purpura (TTP) is characterized by microangiopathic hemolytic anemia and thrombocytopenia. 2. Neurologic deficits are common due to microvascular thrombi affecting the brain. 3. Thrombosis is a hallmark feature of TTP, with platelet aggregation leading to microthrombi formation. 4. Therefore, choice A is not associated with TTP because thrombosis is a defining feature.