Running Head: THE UNINFORMED COACH

The Uninformed Coach

Jennifer Fernandez
University of Saint Mary

THE UNINFORMED COACH

The Uninformed Coach

Founded in 1988 by actor Paul Newman, the Hole in the Wall Gang
Camp is a child life camp for children dealing with a wide spectrum of
illnesses and their respective families. The camps purpose is to foster an
environment of support for these children and their families. The network of
activities and opportunities extend beyond the duration of camp attendance
and are structured to serve the attendees well into adulthood. This
continuation of community is created as a part of the camp infrastructure
and philosophy to serve the attendees throughout their lifetime. (Hole in the
Wall Gang Camp).

Sickle Cell Disease Transmission and Frequency

Shawn, the patient in the case study has sickle cell disease (SCD)
which is caused by mutations occurring on the HBB gene. On this gene, four
protein subunits produce hemoglobin in everyone. The focus is on the two
subunits called beta-globin wherein the mutation occurs. Several diseases
are caused by the HBB gene mutations including hemoglobin S (HbS). If
hemoglobin S is located on at least one of the subunits, sickle cell disease
occurs. Another subunit translocation that also causes SCD is hemoglobin
SC (HbSC). Sickle cell disease is inherited from both parents who are
carriers of Sickle Cell Trait (SCT). It is an autosomal recessive disease,
meaning that each parent donates a copy of the mutated gene. The
parents may often not display signs or symptoms of the disease itself. One

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parent must be a carrier of HbS and the other parent can be a carrier of any
HBB variant. There is a 25% chance that each offspring will be affected by
the disease. There is a 50% chance that each offspring will be a carrier of
the disease but will not suffer from the disease. Also there is a 25% chance
that each child will not be a carrier nor afflicted with the disease. (Kumar,
Patton, Hennek, Lee, DAlesio-Spina, Yang, & Whitesides, 2014).
According to the CDC:
It is estimated that SCD affects 90,000 to 100,000 Americans.
The CDC also estimates that SCD occurs in approximately 1 out
of every 500 African-American births, and 1 out of every 36,000
Hispanic-American births. It is also estimated that SCT occurs
among 1 in 12 African-Americans. (CDC.gov)

Red Blood Cell Sickling

The HBB mutation site replaces glutamic acid with valine at the sixth
position of the B-globin chain. A non-covalent aggregation of hemoglobin
caused by the absence of the polar amino acid at the HBB mutation site
cause red blood cells to form sickle shapes in a low-oxygen environment
thus decreasing their elasticity. The sickled cells then hook together causing
rigid, polymerized structures. (Kumar et al., 2014). Sickled red blood cells
dont live as long as regular, normal red blood cells. Sickled red blood cells
typically have a life-span of 10 to 20 days as opposed to 120 days in a
normal red blood cell. This shortened life-span often times results in

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anemia. Sickled cells are also deficient carriers of oxygen, resulting in

hypoxia or hypoxemia. (Bender & Hobbs, 2012).

Sickle Cell Disease Complications

Sickle cell signs and symptoms begin showing at around five months
of age. At birth fetal hemoglobin is circulating. According to the CDC, fetal
hemoglobin is replaced by hemoglobin S at around four or five months old.
Each person affected with SCD may have different complications or
symptoms. At a young age Hand-Foot syndrome is common. The blood
vessels get blocked leading to the hands and feet resulting in swelling. The
most common SCD complication is pain. Diagnostically called a pain crisis,
sickled cells get trapped traveling through small blood vessels causing mild
to severe pain. The patient often feels as though their blood is scraping its
way through their veins. Another very common complication is anemia.
Since sickled red blood cells have a shorter life-span, the patient has less
red blood cells circulating in their system. This decrease in circulating red
blood cells also equivocates to less oxygen being carried throughout their
system. Infection can be a severe complication in patients with SCD.
Patients with fever or other signs of infection should be seen and treated by
a physician right away to prevent systemic infections. Sickled cells can
cause blockage and damage in several areas and organs in the body.
Blocked blood vessels in the eyes can cause damage to the retina resulting
in vision loss or blindness. Small blood vessels in the legs can become

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blocked leading to ulcers or infections possibly resulting in amputations.

Blood flow can be blocked in blood vessels leading to the brain causing
strokes. Blood coagulation can be stimulated by sickling cells potentially
resulting in deep vein thrombosis or pulmonary embolisms. In males, blood
clots may cause priapism, a painful penile erection. Priapism can lead to
impotence if not corrected within four hours. Splenic sequestration is a lifethreatening complication caused by a large volume of sickled cells getting
trapped in the spleen causing the spleen to enlarge. Although blood
transfusions can help sequestration, the spleen may ultimately have to be
surgically removed (splenectomy). Another life-threatening complication for
SCD patients is acute chest syndrome. Patients presenting with chest pain
or shortness of breath should be immediately admitted for treatment of this
pulmonary illness. (Mayo Foundation).

Acute Complications
Shawn presented to the emergency room with a few acute
complications. His blood smear test showed proof that his red blood cells
were currently sickling. He was in an acute pain crisis triggered by
exposure to cold weather, fighting off an active common cold and strenuous
exercise. The pain started in his left thigh but he continued to work
through it at practice then applied a heat pack per his coaches
instructions. Heat packs cause vasodilation. By the time he was seen at the
hospital he was in too much pain to speak. He was having difficulty

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breathing and his upper abdomen hurt as much as his leg did. He was
displaying signs of acute chest syndrome secondary to a possible pulmonary
embolism. His red blood cells were obviously sickling in his left thigh and
the combination of continuing to work out followed by the application of
heat causing vasodilation may have released a blood clot to his chest. At the
hospital he had an anterior-posterior and a lateral chest x-ray taken that
showed a new infiltrate. Marked consolidation is seen on his left chest in
the x-ray. The x-rays show rounded opacities that are possibly a Hamptons
hump and also a possible Westermarks sign. An official radiologist report
would be necessary along with further testing. A chest CT scan should be
obtained in order to validate impression of a possible pulmonary embolism.
Blood and sputum cultures should be obtained. An array of blood testing
should be obtained as well including: PT/INR, PTT, CBC with differential,
retic count, indirect bilirubin, AST, and LDH. Splenic sequestration should
be ruled out in reference to the upper abdominal pain. Given the new
radiodensity on his chest x-ray along with his difficulty breathing, he should
be admitted with a diagnosis of acute chest syndrome.

Treatments
Shawn should begin immediate treatment for acute chest syndrome.
He should be placed on oxygen for his difficulty breathing. Bronchodilators
may help depending on how his lungs sound. Broad spectrum IV antibiotic
therapy should be started immediately after cultures are obtained, they can

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later be adjusted when the cultures come back with sensitivities. He also
needs to be medicated with pain medication. NSAIDs are very effective,
such as Toradol. However, he may need an opioid as well to control the pain
crisis. Once his pain is controlled he should begin routine use of an
incentive spirometer. He may also require a blood transfusion to promote
his oxygen-carrying ability and to help if he does have splenic sequestration
involvement. Depending on his lab results he may need an exchange
transfusion as opposed to a typical blood transfusion. (Miller, 2011) He will
also need to be started on maintenance IV fluids to rehydrate. Shawn may
also benefit from starting on Hydroxyurea to decrease his chance of
recurrent pain crises. Hydroxyurea increases the level of fetal hemoglobin
reducing the circulation of HgS. (Ramamurthi, Devaraj, & Ramkrishna,
2014).
Shawn should be started on daily medication once he is discharged
from the hospital. He should continue taking Hydroxyurea for the remainder
of his life. He should also start taking Penicillin V Potassium once he stops
IV antibiotic therapy. Penicillin prophylaxis may help prevent him from
developing pneumonia or other systemic infections. Most practitioners stop
penicillin prophylaxis after the age of five, however in cases with splenic
involvement it will be continued later into life. Folic acid should also be
taken as a daily supplement. Folic acid is beneficial in sickle cell patients
due to its ability to replenish the depleted folate stores necessary for

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erythropoiesis. Encouraging adequate oral intake to reduce dehydration

should also be recommended. (Yawn, Buchanan, & Hassell, 2015).

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9
References

American Sickle Cell Anemia Association. Retrieved from:

http://www.ascaa.org
Bender, M. A., & Hobbs, W. (2012). Sickle cell disease. Retrieved from:
http://www.ncbi.nlm.nih.gov/books/NBK1377/
Bennewitz, M., Gladwin, M., & Sundd, P. (2014). Role of neutrophils in
pulmonary vaso-occlusion during sickle cell disease acute chest
syndrome (CAM3P. 200). The Journal of Immunology, 192(1
Supplement), 114-1. Retrieved from:
https://ash.confex.com/ash/2014/webprogram/Paper67853.html
CDC. Center for Disease Control and Prevention. Sickle Cell Disease.
Retrieved from: http://www.CDC.gov/ncbdd/sicklecell/data.html
Dessap, A. M., Deux, J. F., Abidi, N., Lavenu-Bombled, C., Melica, G.,
Renaud, B., & Maitre, B. (2011). Pulmonary artery thrombosis during
acute chest syndrome in sickle cell disease. American journal of
respiratory and critical care medicine, 184(9), 1022-1029.
Dessap, A. M., Deux, J. F., Habibi, A., Abidi, N., Godeau, B., Adnot, S., &
Maitre, B. (2014). Lung imaging during acute chest syndrome in
sickle cell disease: computed tomography patterns and diagnostic
accuracy of bedside chest radiograph. Thorax, 69(2), 144-151.

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Fields, M. E., Berlin, A., Jackups, R., Hulbert, M. L., & Spinella, P. C. (2013).
Red blood cell storage duration and outcomes for acute chest
syndrome in children and young adults with sickle cell disease. Blood,
122(21), 2246-2246.
Hole in the Wall Gang Camp. Retrieved from:
http://www.holeinthewallgang.org
Kumar, A. A., Patton, M. R., Hennek, J. W., Lee, S. Y. R., DAlesio-Spina, G.,
Yang, X., & Whitesides, G. M. (2014). Density-based separation in
multiphase systems provides a simple method to identify sickle cell
disease. Proceedings of the National Academy of Sciences, 111(41),
14864-14869.
Lamarre, Y., Romana, M., Waltz, X., Lalanne-Mistrih, M. L., Tressires, B.,
Divialle-Doumdo, L., & Connes, P. (2012). Hemorheological risk
factors of acute chest syndrome and painful vaso-occlusive crisis in
children with sickle cell disease. Haematologica, haematol-2012.
Maakaron, J. E. (2012). Anemia, Sickle Cell. eMedicine. Retrieved from:
http://emedicine.medscape.com/article/205926-overview
Mayo Foundation for Education and Research. Sickle Cell Anemia. New
York: Mayo Foundation. Retrieved from:
http://mayoclinic.com/health/sickle-cell-anemia/DS00324
Miller, S. T. (2011). How I treat acute chest syndrome in children with sickle
cell disease. Blood, 117(20), 5297-5305. Retrieved from:
http://www.bloodjournal.org/content/117/20/5297?sso-checked=true

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Ramamurthi, A., Devaraj, J., & Ramkrishna, D. (2014). Monitoring

hydroxyurea treatment of sickle cell anemia. Retrieved from:
http://www.nlm.nih.gov/databases/alerts/sickle_cell.html
Yawn, B. P., Buchanan, G., & Hassell, K. (2015). Management of patients
with sickle cell diseasereply. JAMA, 313(1), 91-92.