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Pages:
1 page/≈275 words
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4 Sources
Style:
APA
Subject:
Health, Medicine, Nursing
Type:
Essay
Language:
English (U.S.)
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MS Word
Date:
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Topic:

Pediatrics Knowledge on the Genetic Basis for Sickle Cell Disease

Essay Instructions:

QUESTION 4
Scenario 2: Sickle Cell Disease (SCD)
A 15-year-old male with known sickle cell disease (SCD) present to the ER in sickle cell crisis. The patient is crying with pain and states this is the third acute episode he has had in the last 10-months. Both parents are present and appear very anxious and teary eyed. A diagnosis of acute sickle cell crisis was made.

Question
1. Discuss the genetic basis for SCD.

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Genetic Basis for Sickle Cell Disease (SCD)
According to the epidemiological disease database in the United States (US), SCD is the most inherited disorder. Approximately one hundred Americans bear the disease (National Human Genome Research Institute, 2020). The people commonly affected are African Americans. About one out of twelve African Americans possess the trait (NHGRI, 2020). The hemoglobin-beta gene on the eleventh chromosome is responsible for the mutation that causes SCD.
A child born with SCD inherits a defective gene that causes the disease from both parents. In instances where both parents possess a defective gene, there exists a twenty-five-percentage probability of each of their children being born with the condition (Thein, 2017). On the other hand, if a child inherits a single copy of the gene from one parent, there exists a fifty percent probability that the child will carry the trait (NHGRI, 2020). People carrying the trait do not always get SCD. However, they can eventually pass the gene with the defect to their offspring.
People with SCD possess abnormal hemoglobin molecules that attach and stick together to form long structures that assum...
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