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Kiara Aveytua

Professor Ronald Vernon

Health 1020

April 13, 2017

Sickle Cell Anemia: Genetic Disorder

At first I was going to do my research paper on Alzheimers disease because all three of

my grandparents died from it. But then as we started talking about other diseases I knew I didnt

have the sickle cell anemia disease(SCD) but carried the sickle cell trait(SCT). I did not know

much about this disease so I felt like it was a good opportunity to learn more about it.

Sickle cell Anemia is diagnoses by a blood test. The blood test checks for hemoglobin S.

Hemoglobin S is the defective form that underlies sickle cell anemia. The blood test is part of a

routine in newborn screenings done at the hospital. In adults, a blood sample is drawn from a

vein in the arm. In younger children and babies, the blood sample is collected from a finger or

heel. Then the sample is sent to the lab to be screened. If the test is negative, there is no sickle

cell gene present. If it comes back positive, further testing is dont to determine whether one or

two sickle cell genes are present.

Sickle cell anemia is cause by a mutation in the genetic code for hemoglobin, the protein

that carries oxygen in red blood cells. The mutation cause the amino acids glutamic acid to be

replaced with the amino acid valine. This error produces a change in hemoglobin structure. It can

no longer form the shape needed to carry oxygen efficiently inside the red blood cells. Instead of

forming a normal circular disk, the red blood cell collapses into a crescent (or sickle) shape.
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Sickle red blood cells become hard and sticky, which causes them to clog blood flow and break

apart.

The anatomy affected by SCD is the blood, cells, kidneys, lungs and spleen. The signs

and symptoms for sickle cell anemia vary from person to person. But an individual may

experience severe bone and joint pain, delayed growth, anemia, abdominal pain, vision

problems, fever, pale skin or nailbeds, painful swelling of hands/feet, stroke symptoms, yellow

tint in skin and whites of eyes, chest pain, headache, convulsions, paralysis, frequent infections

and death due to lack of oxygen.

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There are many complications that come with this disease. Such as stroke, Acute chest

syndrome, pulmonary hypertension, organ damage, blindness, leg ulcers, gallstones, priapism

(blocked vessels in the penis, long lasting erections), pneumonia, septicemia and meningitis.

Sickle Cell disease is the most common inherited blood disorder in the united states, affecting

70,000 to 80,000 Americans. The disease is estimated to occur in 1 in 500 African Americans and

1 to 1,400 Hispanic Americans. People from central America, South America are affected. As
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well as people of Middle Eastern, Asian, Indian and Mediterranean descent.

There is no cure for sickle cell disease. There are treatments to help with the symptoms.

Bone marrow transplants offer the only potential cure. It can only be done in younger people,
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younger than the age of 16 because risks increase for older people. Finding a donor can also be a

difficult process and the procedure has serious risks including death. Medications are used to

reduce pain and prevent complications, and blood transfusions, as well as a bone marrow

transplant.

Other medications like antibiotics, pain-relieving meds, Hydroxyurea are uses to reduce

the frequency of painful crises and might reduce the need for blood transfusions and

hospitalizations. Crisis in sickle cell anemia patients are episodes of pain that can occur suddenly

and last between several hours or several days. A special ultrasound machine (transcranial) is

used on children so doctors can learn if that child has a higher risk of stroke. If the child is at risk

regular blood transfusions can decrease stroke risk. Regular scheduled vaccinations are given to

prevent infections. Vitamins are also given, possibly surgery to correct vision problems or to

remove a damaged spleen. Experimental treatments can include gene therapy, Nitic Oxide, drugs

to boost fetal hemoglobin production.

It was somewhat hard to find how nutrients played a part in sickle cell anemia.

But what I found helps with living with the disease and I think it also applies to those who carry

the gene. Taking folic acid supplements daily and choosing to eat a healthy diet. Choose a diet

that has a variety of colorful fruits and vegetables as well as whole grains. Our bone marrow

needs folic acid and other vitamins to make new red blood cells. Drinking plenty of water.

Dehydration can increase the risk of sickle cell crisis. Exercising regularly. This one I found

interesting but avoiding temperature extremes-too hot or too cold can increase the risk of a sickle

cell crisis.

Genetics plays a huge part in this disease. Like I said before Sickle cell is an inherited

form of anemia a condition in which there arent enough healthy red blood cells to carry
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adequate oxygen throughout the body. Two genes for the sickle hemoglobin must be inherited

from ones parents to have the disease. A person who receives a gene for sickle cell disease from

one parent and a normal gene from the other has a condition called sickle cell trait.

The Sickle cell trait is not a disease but having it means that a person has inherited the

sickle cell gene from one of the parents. People with the trait usually dont have symptoms of

sickle cell disease and live a normal life. Rarely in extreme conditions such as severe

dehydration and high-intensity physical activity can lead to serious health issues, including

sudden death, in individuals who have the trait.

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Work Cited

http://www.mayoclinic.org/diseases-conditions/sickle-cell-

anemia/home/ovc-20303267
Foundations of Nutrition Contemporary Nutrition Fourth Edition SLCC

2015
o Authors: Wardlaw, Smith, and Collene
Human Biology: Second Custom Edition for Salt Lake Community

College 2014
o Authors: Belk, Maier, Marieb, Wilhelm, and Mallatt
Sickle Cell Disease: Genetics, Management and Prognosis
o Author: Marilyn E. Lewis
Sickle Cell Disease
o Author: Darleen Powars