The Hunt for the Cure for Sickle Cell Anemia

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Sickle cellphone anemia which can also be referred to as sickle cell ailment is an inherited blood disorder disease which impacts hemoglobin production. The body, therefore, ends up producing red blood cells which are abnormally shaped. For individuals with sickle telephone anemia, hemoglobin in red blood cells clumps together and they are compelled to become stiff as well as expect a C-shape. Since hemoglobin is the component in our blood which aids in the transportation of oxygen from the lungs to the rest of the physique tissues, the malformed red blood cells obstruct the blood capillaries and block the drift of blood and oxygen in the blood vessels (Crowley, 2013). The obstruction results in recurring episodes of pain referred to as the sickle cell pain crises.

Anemia results from the fact that the sickle cells break down more rapidly compared to normal red blood cells. The most important parts of the body also may end up receiving an insufficient amount of oxygen or even none of it because of the obstructions. Sickle cell anemia is the most prevalent form of sickle cell diseases arising from the homozygous single nucleotide polymorphisms. Many varied aspects of the condition have been investigated and reviewed. Stack approaches and analysis of data by influential individuals and panels have been trying to verify and validate the biomarkers regarding the severe nature of sickness. These verified and validated biomarkers would then be used in clinical studies to determine early prognostics in life when it comes to predicting the severity of sickle cell anemia, as the process would then allow for precision treatment and medicine for individuals with sickle-cell disease.

Background

Currently there is no cure for sickle cell anemia and that is the reason why the hunt for a cure is necessary. What there exist are treatments for the symptoms and complications, but there is no complete cure for the disease. Over the past decades, both scientists and doctors have been able to learn and gain an extensive wealth of knowledge regarding sickle cell anemia. Because of their advancements, people now are aware of the causes of sickle cell anemia, how the disease affects the body, and, finally, how most of its complications can be treated. Thanks to the improvements made to the care and treatment, individuals with sickle-cell anemia can now live well up to forty or fifty years and more. Most institutes such as the NHLBI have continued with their support to discover new and better methods of treating sickle cell anemia.

It is, however, important to note that research on sickle cell has been going on for about one hundred years. In the year 1910, a doctor by the name James B. Herrick, at the time a physician working at Presbyterian and at the same time a medical professor at the at Rush medical college in Chicago, came across a dental student who had a case of anemia and published an article (Herrick, 2014). The laboratory findings of the patient Walter C. Noel included a peculiar and elongated sickle-shaped red blood cell. That is how the disease was first described according to the western medical literature. Because of his work, the National Institute of Health, which brings together experts from around the globe through its institutes, centers, and sponsored symposiums, addressed the issue.

What Causes Sickle Cell Anemia?

First, sickle cell anemia is a genetic disorder. Individuals with the disease are born having two sickle cell genes from each of the parents. The abnormal gene is as a result of the genetic changes in hemoglobin molecules. On the other hand, if an individual inherits one sickle cell gene and one normal hemoglobin gene from either of the parent, then the individual will have a sickle cell trait. Such individuals cannot be affected by the disease because they are merely the carriers of the trait. They, however, risk passing the abnormal gene to their children.

Symptoms

The cause of sickle cell anemia varies from one individual to another. Typical symptoms in infants include fever, upper respiratory infections, and nosebleeds, swelling on both the hands and feet, and pain in the chest, abdomen, joints, and limbs. These signs often appear late in their first year. For children, pain is often the most common complaint. It may be severe, acute, or chronic from the legs to the lower back. Other symptoms include jaundice, irritability, fatigue, and shortness of breath (Yawn et al., 2014). Additional symptoms in adolescents and adults include severe joint pains, delayed puberty among teenagers, progressive anemia, sore legs, vision problems, and gum disease. It is important also to note that symptoms from childhood do continue into adulthood. Crises could also be induced by exposure to cold, trauma, or extreme heat as well as infection, physical exertion, and dehydration.

Incidence and Prevalence

Sickle cell anemia has been found to be common in particular ethnic groups. The difference is believed to be as a result of the evolved hemoglobin as a form of protection against malaria which makes individuals with the sickle cell trait less susceptible to malaria compared to people with normal hemoglobin. Findings show that in geographical areas where malaria is prevalent, individuals with sickle cells are more likely to pass the trait on to their children. For instance, the sickle cell trait is more common in people of Africa descent, followed by the Portuguese, French, Spanish, and others. For every 500 individuals of African-American ancestry, one person is affected by sickle cell disease while about 8%, which makes one in about twelve individuals, has the sickle cell trait (Hyacinth et al., 2014).

Current Studies

Current and aggressive forms of treatment for sickle cell anemia are helping to prolong and improve the quality of life. The average lifespan for individuals with sickle cell anemia was only 14 years as recently as 1973 while today we find that the lifespan has increased to 50 years and more. However, females with sickle cell anemia tend to live longer than males. Recently there were efforts made by the National Heart, Lung, and Blood Institute supporting efforts to find new and better forms of treating sickle cell anemia. As recent as 2009, scientists discovered that modifying and transplanting an adult blood stem cells could improve the condition of 9 out 10 adults affected by the disease. This study carried out at the NIH clinical center is considered a milestone in the hunt for the cure for sickle cell anemia (Boat & Field, 2011). A team of researchers from NHLBI, NIDDK, and NIAID led by Dr. John Tisdale made this breakthrough.

During the same year, NHLBI launched an initiative dubbed Exploratory Studies in the Neurobiology of Pain in Sickle Cell Anemia as well as laying down the groundwork for developing effective drug treatments. One of the studies done was to examine whether individuals of AfricanAmerican descent who have the disease experienced pain differently compared to healthy adults. Other studies focused on the evaluation of pain perception regarding animal models with malady. A study done in 2011 discovered that neurologically healthy individuals affected by sickle cell anemia registered lower scores when tests were done on the functioning of the brain compared to adults who were neurologically normal but did not have sickle cell anemia (Boat & Field, 2011). This suggested the fact that the disease had a much greater impact on the brain than what was thought previously.

 This was followed by a study evaluating the impact of a newly developed treatment, on the functioning of the brain. To be able to be precise in the treatment of an individual infant or child, knowing who could have a mild, moderate, or severe phenotype is necessary. In that regard, the only drug approved by the FDA to be used by patients with sickle cell anemia is hydroxyurea because of its ability to induce HbF. A recent study conducted by NHLBI led to the recommendation that the drug should be given to children with sickle cell anemia nine months from the time of birth despite their clinical symptoms. Another retrospective study performed at the University of Rochester on patients with sickle cell anemia found that the disease was most common in individuals with HbSβ0 and HbSS. In determining the risks and benefits of the drug hydroxyurea, patients with sickle cell anemia were subjected to a test. Those patients who were using the drug had a higher concentration of hemoglobin and, therefore, required fewer transfusions compared to those not on the medication (Ware et al., 2015). Surprisingly, treatment using hydroxyurea had no impact on the ability of a child to produce a protective parvovirus B19 immune response.

Conclusion/Future Outlook

One of the objectives regarding the treatment of sickle cell anemia should be controlling and treating the condition at the earliest time possible. This means finding ways to treat sickle cell anemia as early as during pregnancy. For instance, expectant women should undergo treatment at high-risk clinics. The severe nature of some conditions could also be lessened if individuals learn and accept to take into consideration the necessary preventive measures and lifestyle changes. We are looking towards a future where it should be mandatory for individuals with the history of sickle cell anemia to undergo regular physical examinations. Perhaps one major area where there has been a lack of attention is the need for psychosocial support for individuals with the condition.

Families and patients go through a lot of emotional challenges. As much as we strive to find a cure for sickle cell anemia, the treatment options should also be able to address the psychosocial issues faced by these patients (Shoney, 2017). Other than the pain itself, most of them often struggle with isolation, stress, and fear of death. As a caregiver, the priority should also be on finding the right balance between the emotional and psychological support for the patient. As the years go by, it is hoped that those communities which lack the necessary services and professional who can help meet the needs of patients with this malady will have access to them as the awareness of the disease continues to be spread.

It is no secret that compared to other types of patients the medical sector has been unable to fully satisfy sickle cell patients regarding compassion and attention. Most other diseases and conditions have been prioritized. Future research efforts regarding sickle cell anemia include some of the genetic factors which affect the symptoms of sickle cell anemia, regulation of hemoglobin production, new treatments for the pain, as well as the development of drugs which would be able to increase fetal production of hemoglobin. On the technological side, gene therapy is one area where most attention is being given because of its ability to solve the problem in case a breakthrough was made.

Compared to 30 years ago, the life expectancy for patients with sickle cell anemia has been on the increase and with new and improved treatment options in the future, the number is expected to continue rising. A larger improvement would also be achieved with increased government support in the years to come. Currently, it is estimated that only about 30% of the patients with access to the FDA approved drug hydroxyurea are taking the medication. As more awareness is created, it is expected that this percentage would be able to increase.

Even so, researchers are now looking into other drugs which target some of the complications attributed to sickle cell anemia rather than treating the underlying causes and symptoms of the condition (Wilkie, 2016). Gene therapy also presents new hope for the treatment of sickle cell anemia. For over 60 years, scientists have had knowledge regarding the cause of sickle cell anemia. However, transforming the piece of information into a form of treatment has proven to be a challeng. Scientists believe they are very close to using gene therapy to treat sickle cell anemia in the next year or so. On the other hand, colleagues at the National Institute of Health are also working on coming up with a less myelosuppressive form of transplant which would increase the number of sickle cell patients eligible for a transplant.

References

Crowley, L. V. (2013). An introduction to human disease: Pathology and pathophysiology correlations. Burlington, MA: Jones & Bartlett Learning.

Boat, T. F., & Field, M. J. (2011). Rare diseases and orphan products: Accelerating research and development. Washington, D.C: National Academies Press.

Herrick, J. B. (2014). Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia. Jama, 312(10), 1063-1063.

Hyacinth, H. I., Carty, C., Burke, G. L., Naik, R. P., Adams, R. J., Gee, B. E., ... & Hunt, K. J. (2014). Is sickle cell trait associated with incident cardiovascular outcomes in African Americans? American Society of Hematology, 124(21).

Shenoy, S., Angelucci, E., Arnold, S. D., Baker, K. S., Bhatia, M., Bresters, D., ... & King, A. A. (2017). Current results and future research priorities in late effects after hematopoietic stem cell transplantation for children with sickle cell disease and thalassemia: A consensus statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric Hematopoietic Stem Cell Transplantation. Biology of Blood and Marrow Transplantation, 23(4), 552-561.

Ware, R. E., Davis, B. R., Schultz, W. H., Brown, C., Aygun, B., Sarnaik, S. A., ... & Luchtman-Jones, L. (2015). TCD with transfusions changing to hydroxyurea (TWiTCH): hydroxyurea therapy as an alternative to transfusions for primary stroke prevention in children with sickle cell anemia. American Society of Hematology, 23(3).

Wilkie, D. J. (2016). Research to advance health and health care for individuals with sickle cell disease: A drop in the bucket of needed research. Journal of Advanced Nursing, 72(6), 1396-1397.

Yawn, B. P., Buchanan, G. R., Afenyi-Annan, A. N., Ballas, S. K., Hassell, K. L., James, A. H., ... & Tanabe, P. J. (2014). Management of sickle cell disease: Summary of the 2014 evidence-based report by expert panel members. Jama, 312(10), 1033-1048.

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