Sickle Cell Anemia

Cindy, Mary Kate, Brandon, and Sam

Case Study:

Cindy Carballada, a 4 month old female, was experiencing slight issues within her body shortly after birth. Her mother, Mary Kate, noticed symptoms of fatigue, periodic pain followed by loud cries, shortness of breath, swollen hands and feet, as well jaundice (yellowish coloring of skin and whites of eyes). Mary Kate decided to take Cindy to the doctor where she hoped to find a diagnosis.

Cindy received multiple blood tests to check for hemoglobin S, which is the defective form of hemoglobin that underlies sickle cell anemia. Results came back positive which meant that one more test needed to be done to see if there was 1 or 2 sickle cell gene. The Doctor then found that Cindy had 2 genes which means that she had much more of the defective hemoglobin. A blood sample was then taken to be examined under a microscope to check for large number of sickle cells.

The doctor then diagnosed Cindy with sickle cell anemia. He explained that this disease is a form of anemia in which a mutated form of hemoglobin distorts the red blood cells into a crescent shape. These cells are also at low oxygen levels. It was discovered that Cindy did inherit a gene for this disease from both parents. Sickle cell anemia is present at birth but is not seen until later months in infants.

The doctor explained that the only potential cure would be a bone marrow transplant, which has serious risks including death. Because of Cindy's young age, Mary Kate did not want to risk this procedure and decided to treat with various medications to reduce pain, blood transfusions, and supplemental oxygen. The doctor prescribed penicillin and hydroxyurea to prevent infections and reduce the need for blood transfusions.

Unfortunately, this treatment plan was not working as well as expected. Mary Kate decided that Cindy needed a bone marrow transplant. This was a successful procedure and Cindy is now completely healthy but doctors still frequently check her blood.

Works Cited:

Mayo Staff Clinic. "Sickle Cell Anemia." Treatments and Drugs. Mayo Foundation, 2015. Web. 11 Mar. 2015.
U.S Department of Heath & Human Services. "What Is Sickle Cell Anemia?" - NHLBI, NIH. NIH, 28 Sept. 2012. Web. 11 Mar. 2015.