Sickle Cell Anemia

Sickle Cell Anemia:

Annotated Bibliography

The resources annotated in the following bibliography provide a detailed overview of sickle cell anemia, also known simply as sickle cell disease. Within the bibliography is a general description of the disease, including its causes, prevalence, and pathology -- the way the disease progresses and the symptoms it causes. Other studies that were included in this bibliography build on this information, describing various ways that are being researched or have been developed for treating the disease.

Often with sickle cell anemia, the treatment of symptoms is the only thing that is truly effective, and some of the studies included here demonstrate this fact. Other studies show the exciting new ways in which the very mechanism of the disease is being combated, often through gene therapies. Sickle cell anemia is caused by a specific mutation on a gene; scientists are currently developing ways both to fix that mutation and to insert other genes that produce different types of hemoglobin, some of which interact with the sickle-causing hemoglobin in ways that disrupt the disease's progression. Several of these methods are also detailed herein, along with other interesting facts and vital pieces of information regarding sickle cell anemia.

Townes, T., Jeanisch, R. et al. (2007). "Treatment of sickle cell anemia mouse model with IPS cells generated from autologous skin." Science, 318:1920-1923. Etreived via Gale Genereal reference Center Gold.

Summary:

This article details how scientist were able to take cells from the tails of mice and make them behave as though they were embryonic stem cells. These so-called induced pluripotent cells have received much attention because they have much the same medical usefulness of embryonic stem cells -- which exhibit the ability to become any other type of cell in the body, promising to eventually lead to whole new therapeutic techniques and ways to combat disease. Pluripotent cells are especially appealing because they provide a way around the ethical and moral objections to embryonic stem cell creation, retrieval, and research, as it requires the destruction of an embryo, which is a very nebulous gray area in humans. In this particular study, the pluripotent cells created by the scientists were used to alter DNA in marrow that produced red blood cells, starting the creation of healthy red blood cells instead of the sickle-shaped cells that are the hallmark of this disease.

Assessment:

this article is very brief, and does not provide a great deal of details about the study. Instead, it focuses on the achievement as another advancement in the use of pluripotent cells, rather than as a step forward in treating sickle cell anemia. The results apply to both areas, of course, but the article could detail the effects of treatment more.

Reflection:

Though brief, this article was very interesting, and made me realize how interconnected the issue of sickle cell anemia is with other genetic disorders. The focus of the article is on the larger picture, not just the details of this one disease. Still, this means that advancements in treating sickle cell anemia could be beneficial elsewhere.

Hogan, J. (2003). "Undoing the twist could banish sickle cells." New scientist, 2385:17. Retrieved via ProQuest.

Summary:

Sickle cell anemia is caused by malformed hemoglobin that becomes sticky, twisting in on itself and forming long needles that force the normally disc-shaped cells into the sickle shapes that give the disease its name. One of the main current treatments for sickle cell anemia is the use of fetal hemoglobin or drugs that cause its creation in adults; this type of hemoglobin interacts with the faulty hemoglobin in a way that makes it less sticky, so that it forms clumps that don't change the size and shape of the red blood cell. This article outlines recent evidence that suggests simply preventing the hemoglobin from twisting could also prevent it from forming into needles, ending the problem. Other types of hemoglobin are being tested to see if they can reduce "twistiness" in addition to or instead of the stickiness of the bad hemoglobin. This could lead to many major improvements in the treatment of the disease.

Assessment:

This article is well-written and engaging, in a tone and with diction that makes it very accessible to lay readers but that does not skimp o technical details. The causes and effects of the disease are explained succinctly and in a complete and understandable way. The mechanisms by which the treatments discussed in the article are somewhat less clear, but given the amount of space devoted to the piece as a whole and to these pieces of information specifically, the author did a fantastic job of getting out as much information as she did in such a short space.

Reflection: The many ways to go about curing a disease are surprising. Gene therapy also seems to be at the heart of combating sickle cell anemia. The different applications astound.

Platt, O. (2005). "Preventing stroke in sickle cell anemia." The New England journal of medicine. 26:2743-5. Retrieved via ProQuest.

Summary:

This article details the basic pathology of sickle cell anemia, especially detailing the way in which the characteristics of the red blood cell malformation can increase the possibility of a stroke. Specifically, the article details how the sticky malformed hemoglobin can cause red blood cells to rupture. The stickiness is then exposed to the epithelial cells of blood vessels, and can stick to them, forming clumps and eventually clots which, in the right (or wrong) place, could lead to a stroke. Furthermore, evidence shows that the areas where blood cells have stuck before become activated in a way that makes them more prone to sticking in the future. Monitoring of the progress of the disease is the best way to prevent stroke that the author provides, other than regular transfusions in children with a certain type of the disease. In conclusion, the article notes the very possible link between genetic predispositions to stroke generally and the hereditary cause of sickle cell anemia, suggesting that certain sufferers should be especially aware.

Assessment:

Despite the title, this article spends far more time detailing how sickle cell anemia works and how it causes strokes than it does in dealing with how to prevent them. But although the article does not really fulfill its stated purpose, it provides excellent information on the working of the disease and possible treatments ad cures. It is especially mindful of the side issues that the disease can cause.

Reflection:

It is strange to think that the issue of the sickle-shaped cells are not dangerous themselves. It takes a group of them to cause damage, and then usually indirectly. The fact that the body can respond to this in negatively encouraging ways is somewhat disturbing.

Harrison, M., Edwards, C. et al. (2005). "Religiosity/spirituality and pain in patients with sickle cell disease." Journal of nervous and mental disease, 193:250. Retrieved via ProQuest.

Summary:

The authors of this study first cite research that establishes a fairly clear link between certain signs of religious and/or spiritual connection and observance and the ability to manage stress caused by the symptoms of sickle cell anemia. They go on to describe the lack of research into the efficacy of religiosity/spirituality in actually managing some of the symptoms of sickle cell anemia, specifically pain. Using church attendance, prayer and/or Bible study, and intrinsic religious feelings, the researchers measured the levels of religiosity/spirituality in individuals with sickle cell anemia. After controlling for age, gender, ethnicity, and other factors that influence the reporting of pain, the researchers found that religiosity/spirituality has a strong correlation to reduced reporting of pain, with regular church attendance resulting in the lowest reportage.

Assessment:

The size of this study (there were fifty participants) makes the results somewhat questionable. However the researchers provided their results in a very fair light, and…