Sickle Cell Anemia

Sickle Cell Disease: Journal Article Review

Kelsey Bowman
Bio 204: Anatomy and Physiology 2 Zellers

Sickle cell disease is an autosomal recessive genetic disorder most common in African Americans, which results from a mutation affecting the amino acid sequence of the beta chains of hemoglobin molecules in red blood cells. The abnormal hemoglobin which causes the red blood cells to sickle is called hemoglobin S. Sickling occurs when the red blood cells are deoxygenated causing the cell to have a hard curved crescent shape. Due to their shape the sickle cells can become trapped in blood vessel walls causing a circulatory blockage and could cause tissues to become oxygen deprived, pain, infection, and organ damage. Red blood cells in sickle cell disease also have a life span of 10 to 20 days compared to normal red blood cells of 120 days; because of this shortened life span chronic hemolytic anemia occurs (Thompson, 2012). All together sickle cells disease causes a dramatic decrease in the quality of life that can lead to early death, the absolute need for medical intervention, and transplantations. Almost all patient care is based upon treating and managing the symptoms that accompany sickle cell disease. Sickle cell disease severity varies from patient to patient making it hard to predict which patients will respond adequately to certain treatments. Individuals with severe complications from the disease itself would benefit best from aggressive treatments such as transplantations. Severe complications include pain, splenic crisis, acute chest syndrome, pulmonary hypertension, and stroke. The articles by Thompson and Meier share the same information about sickle cell disease, the complications and risk of procedures, and what type of treatments are available. Although, the article by Thompson goes farther in depth on the cure of stem cell research and transplants versus the article by Meier with the main focus of symptoms and symptom management in pediatric patients. One of the main focuses in both articles is managing symptoms through the only FDA approved medication for sickle cell disease called Hydroxyurea. Hydroxyurea increases the concentration of fetal hemoglobin over the concentration of hemoglobin S. Fetal hemoglobin closely resembles normal red blood cells causing them to survive 5 times longer than they would with hemoglobin S, and with the overall decrease in hemoglobin S there will be fewer amounts of circulating sickle cells (Thompson, 2012). Meier and Thompson both state that patients that have been treated with Hydroxyurea showed a decrease in pain crises, acute chest syndrome, and a fewer need for blood transfusions. Pediatric patients will use Hydroxyurea in small doses which are then increased in increments until the full dose is reached. The same beneficial results were found in adults as children, and children did not experience any growth or developmental delays deeming it safe for pediatric use (Meier, 2012). Unfortunately, Hydroxyurea is not beneficial in severe conditions because it has a slow onset and alone is not a cure. The articles also both state and agree that the only known cure for sickle cell disease is stem cell transplantation. Hematopoietic stem cells are either taken from a donor’s bone marrow, peripheral blood, or cord blood that has been banked. Not only is the procedure painful, but the chances of finding a matching donor are very limited. The most significant barrier in stem cell transplantation is finding a human lymphocyte antigen matched donor, “fewer than 20% have a suitable sibling donor” (Meier, 2012). Stem cell transplantation in sickle cell disease patients has very high complication rates. Some of these complications include graft versus host disease, infection, infertility, seizures, hypertension, and anemia. Patients may have to go through blood transfusions to treat anemia, but some risks involve allergic reactions, infections, and iron overload. Many infections can be prevented through routine vaccinations especially during childhood. All together it is in the patient’s best interest to start treatment earlier in life because, in children the survival following the transplantation was 90% and only 62% in adults, but finding a matched sibling donor provides the best overall event free survival of 97% (Meier, 2012).
With increasing research about gene mutations, gene therapy, and the use of stem cells will provide the most definite cure for sickle cell disease patients now and in the future. Additional research about the symptoms acquired with sickle cell disease and non-medical treatments and remedies may be beneficial to some individuals about this subject. More research could be done on cord blood transplants since it offers options for individuals who are unable to find a matching donor. Finally, additional research on the exact hereditary gene mutation paired with assisted reproduction technologies to prevent the passing of the trait to future generations could be beneficial to the prevention of sickle cell disease.
In all, sickle cell disease causes a great amount of harm and discomfort to patients whether suffering from mild cases or severe. There are many treatment options available to accompany the many symptoms, but almost all treatments have dramatic and lifelong risks. Stem cell transplantation is the only cure and best option for patients with this disease, and when combined with other preventative treatments will provide the patient the healthiest and virtually longest life possible. Based on the knowledge that I have gained from class and the information I have read in our course text book, I feel as though the information provided in these articles is credible. We have learned about the hemoglobin structure within red blood cells, the general aspect of sickle cell anemia, bone marrow, blood transfusions, and stem cells. Not only is the information reliable based on the material covered in class, but both of the articles have authors who have worked at national institutes and credited medical centers.

Bibliography

Meier, E., & Miller, J. L. (2012). Sickle Cell Disease in Children. Drugs, 72(6), 895-906.
Thompson, L., Ceja, M., Young, S. (2012). Stem cell transplantation for treatment of sickle cell disease: Bone marrow versus cord blood transplants. American Journal of Health-System Pharmacy, 69(15), 1295-1302.

Bibliography: Meier, E., & Miller, J. L. (2012). Sickle Cell Disease in Children. Drugs, 72(6), 895-906. Thompson, L., Ceja, M., Young, S. (2012). Stem cell transplantation for treatment of sickle cell disease: Bone marrow versus cord blood transplants. American Journal of Health-System Pharmacy, 69(15), 1295-1302.