A nurse is explaining the etiology of sickle cell disease to a group of nursing students.
Which statement accurately describes the genetic basis of this condition?
"Sickle cell disease results from a dominant genetic mutation.”..
"Both parents must pass on the mutated gene for sickle cell disease to manifest.”..
"The mutation in the HBB gene leads to the production of normal hemoglobin.”..
"Sickle cell disease is inherited in an autosomal dominant manner.”..
The Correct Answer is B
Choice A rationale:
"Sickle cell disease results from a dominant genetic mutation.”.
This statement is not accurate.
Sickle cell disease is not caused by a dominant genetic mutation.
It is an autosomal recessive genetic disorder, meaning that both parents must pass on the mutated gene for the disease to manifest.
In this condition, a person must inherit two copies of the mutated HBB gene (one from each parent) to have sickle cell disease.
Choice B rationale:
"Both parents must pass on the mutated gene for sickle cell disease to manifest.”.
This is The correct answer.
Sickle cell disease is inherited in an autosomal recessive manner, which means that it only manifests when a person inherits two copies of the mutated HBB gene, one from each parent.
If only one copy of the gene is inherited, the individual is a carrier (sickle cell trait) and does not have the disease.
Choice C rationale:
"The mutation in the HBB gene leads to the production of normal hemoglobin.”.
This statement is incorrect.
The mutation in the HBB gene results in the production of abnormal hemoglobin, known as hemoglobin S (HbS).
This abnormal hemoglobin is responsible for the characteristic changes in red blood cells seen in sickle cell disease.
Choice D rationale:
"Sickle cell disease is inherited in an autosomal dominant manner.”.
This statement is also incorrect.
Sickle cell disease is not inherited in an autosomal dominant manner.
It is an autosomal recessive genetic disorder, as explained in Choice B.
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Related Questions
Correct Answer is D
Explanation
Jaundice and dark urine.
Choice A rationale:
Pale skin and nail beds are not typically the primary clinical manifestations of sickle cell disease during a crisis.
Sickle cell crises are primarily characterized by vaso-occlusive events leading to severe pain.
While paleness may occur due to anemia associated with sickle cell disease, it is not the hallmark manifestation during a crisis.
Choice B rationale:
An elevation in blood pressure is not a specific clinical manifestation of sickle cell disease.
In fact, individuals with sickle cell disease may experience a drop in blood pressure during a crisis due to reduced blood flow and organ perfusion.
Elevated blood pressure is more likely to be associated with other health conditions or stressors.
Choice C rationale:
Swelling of the lower extremities is not a typical clinical manifestation of sickle cell disease during a crisis.
The hallmark features of a sickling crisis include pain, jaundice, and, in some cases, dark urine, which results from the breakdown of sickled red blood cells.
Swelling may occur in other conditions but is not specific to sickle cell disease.
Choice D rationale:
Jaundice and dark urine are crucial clinical manifestations to monitor in a client with sickle cell disease during a crisis.
Jaundice indicates the breakdown of red blood cells, which is a common occurrence during vaso-occlusive events.
Dark urine results from the excretion of bilirubin, a byproduct of red blood cell breakdown.
These manifestations provide important diagnostic information and guide treatment.
Correct Answer is C
Explanation
Painful vaso-occlusive crisis.
Choice A rationale:
Impaired immune function is not the primary clinical manifestation assessed in a client with sickle cell disease experiencing severe pain in the joints and abdomen.
While sickle cell disease can affect the immune system, the immediate concern in this scenario is addressing the intense pain caused by vaso-occlusion.
Choice B rationale:
Organ damage is a potential long-term complication of sickle cell disease, but it is not the primary clinical manifestation being assessed in this patient.
The description of sharp, stabbing pain in the abdomen and joint aches is indicative of a vaso-occlusive crisis, and the focus should be on pain management and addressing the crisis itself.
Choice C rationale:
The nurse is most likely assessing a painful vaso-occlusive crisis in this patient.
The description of sharp, stabbing pain and joint discomfort is consistent with the pain experienced during a vaso-occlusive crisis.
These crises are a hallmark feature of sickle cell disease, characterized by the occlusion of blood vessels by sickled red blood cells, resulting in severe pain.
Choice D rationale:
Delayed growth and development are long-term consequences of sickle cell disease, primarily seen in pediatric patients.
In this scenario, the acute issue is the pain and discomfort the patient is currently experiencing, which is more indicative of a vaso-occlusive crisis.
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