A three year old African American male, presents at the emergency department wit

Question

A three year old African American male, presents at the emergency department with symptoms of sudden weakness, pale lips, fast breathing, extreme thirst, abdominal (belly) pain on the left side of body, and fast heartbeat. The ED learns the child has been diagnosed with Sickle Cell Disease. This patient has Medicaid and lives forty-five miles from Seattle, Washington.

Give a summary of the disease process of your patient, including process for diagnosis, symptomology, treatment, tests, short and long term prognosis.

Explanation / Answer

A. Sickle Cell Disease: It is a recessive trait that affects the red blood cells in the body, turning them crescent, or sickle shaped. The shape of the RBC affects the stream of blood, clogging the arteries and causing fatal outcomes. It is a genetic disorder based on a single point mutation in which RBC's take the shape of a sickle cell. Individuals who are homozygous for the gene controlling hemoglobin S. The disease is characterized by the destruction of red blood cells and by episodic blocking of blood vessels by the adherence of sickle cells to the vascular endothelium.

B. Sickle cell anemia inheritance: It is inherited as an autosomal recessive condition. This means that the gene can be passed on from a parent carrying it to male and female children. In order for sickle cell anemia to occur, a sickle cell gene must be inherited from both the mother and the father, so that the child has two sickle cell genes.

C. Types: Hemoglobin is the protein in red blood cells that carries oxygen. It normally has two alpha chains and two beta chains. The four main types of sickle cell anemia are caused by different mutations in these genes. The 4 types are…

1. Sickle cell anemia
2. Sickle cell trait
3. Sickle cell Hgb C
4. Sickle cell thalassemia

D. Symptomology:

1. Painful swelling of the hands and feet, known as dactylitis

2. An increased risk of serious infections

3. Anaemia can cause tiredness and shortness of breath.

4. Fatigue or fussiness from anemia

5. A yellowish color of the skin, known as jaundice, or whites of the eyes, known as icteris, that occurs when a large number of red cells hemolyze.

E. Tests:

The best way to check for sickle cell trait or sickle cell disease is to look at the blood using a method called high-performance liquid chromatography (HPLC). This test identifies which type of hemoglobin is present. To confirm the results of HPLC, a genetic test may be done. Several tests can be used to look for SCD, they are…

1. Blood counts can reveal an abnormal Hb level in the range of 6 to 8 grams per deciliter.

2. Blood films may show RBCs that appear as irregularly contracted cells.

3. Sickle solubility tests look for the presence of Hb S.

4. Hb electrophoresis is always needed to confirm the diagnosis of sickle cell disease. It measures the different types of hemoglobin in the blood.

F. Treatments for sickle cell disease:

People with sickle cell disease will need specialist care throughout their lives. A number of treatments are available to help manage problems caused by the condition.

1. Painful episodes can sometimes be prevented by drinking plenty of fluids and staying warm

2. The risk of infections can be reduced by taking daily antibiotics and ensuring you're fully vaccinated

3. A medicine called hydroxycarbamide (hydroxyurea) can reduce the symptoms if they're interfering with your or your child's life

4. Having regular blood transfusions (usually every 3-4 weeks) may be helpful if problems continue or get worse, or there are signs of damage caused by the condition.

5. Stem cell or bone marrow transplants can potentially cure sickle cell disease, but they're not done very often because of the significant risks involved.

G. Short and long term prognosis

I. Short term prognosis:

1. Use heating pads for pain relief.

2. Take folic acid supplements, as recommended by your doctor.

3. Eat an adequate amount of fruits, vegetables, and whole-wheat grains. Doing so can help your body make more RBCs.

4. Drink more water to reduce the chances of sickle cell crises.

5. Exercise regularly and reduce stress to reduce crises, too.

II. Long term prognosis:

1. Sickle cell anemia is an inherited disease. Talk to a genetic counselor if you’re worried that you might be a carrier. This can help you understand possible treatments, preventive measures, and reproductive options.

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