Sickle Cell Disease Is a Term Paper

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[Harvard University] it is observed that younger patients are much better than adults in post transplantation recovery and Current statistics project a more successful picture with a reduced mortality rate for bone marrow transplantation at 5%. Also, this is a relatively new procedure with a total of only 200 people with the sickle cell disease having undergone it. [Debby Golonka]

Gene Therapy

With the advancements in genetic science the search for a cure to sickle cell disease by way of gene therapy is ongoing. It has been many years since researchers cloned the beta globin gene and current research is focused on the locus control region and the use of adeno-associated viruses as vectors. Research is also focused on inserting the AAV into pluripotent stem cells so as to trigger the synthesis of healthy beta-globin naturally. However, there are still a lot of biomolecular mechanisms involved that need to be clearly understood before gene therapy can be offered as a solution for sickle cell disease. One important problem for example, is overcoming the immune response to the viral vector. [Harvard University]

Psychosocial Implications

Like any other debilitating disease there are definitely psychosocial issues associated with the Sickle cell disorder. The fact that the disease is genetic and more common within one particular community (African-American community) has its own implications. African-American people with the disease may feel marginalized and discriminated both with the insurance and the employment sectors and this fear maybe either perceived or real. These problems may get amplified in the absence of adequate counseling services. From the individual patient's perspective the impact of the debilitating nature of the disease results in fear and poor self-esteem. In some cases faced with a disease that has no cure, children discontinue their education and are totally unprepared as adults to face the challenges of life. Severe stress and disempowerment is associated with the disease both in the patient as well the family.

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The frequent pain crisis and the incurable nature of the disease and the imminent early death cause immense suffering and stress within the family. [Janice H. Schopler, 1990, pg 85]

It is not uncommon that people with sickle cell disease avoid their disease status from their prospective employer for fear of not being picked up for the job. The frequent pain episodes and the time off from work create stress in patients, which adds to their fear of losing their job. Such patients who suffer from frequent bouts of pain and other disabling symptoms need vocational rehabilitation. Patients with severe disabilities associated with the condition may be employed in sheltered workshops. [Walter C. Stolov, 2000, pg 362]

Conclusion

Sickle cell disease is a distressing and debilitating genetic disorder with associated psychosocial implications as with any other chronic incurable disease. Besides a risky bone marrow transplantation there is no real hope for a complete cure with other interventions. Pharmacological therapy is thus largely focused on symptomatic management and reducing the discomfort and pain for the patient. Drugs such as Hydroxyurea, Erythropoietin, Nitric Oxide, etc. have so far shown considerable success in palliating the symptoms. Screening for babies and administering prophylactic doses of antibiotics is found to be promising in avoiding opportunistic bacterial infections and reducing associated infant mortality. The development of gene therapy for sickle cell disease is still underway and though researchers have successfully cloned the beta globin long back they are still a long way from understanding the complex biochemical and molecular mechanisms, a knowledge of which is necessary before gene therapy could be an answer to sickle cell disease. The psychosocial implications of the condition assume greater significance for counselors and rehabilitators. The fear and stress associated with a chronic disabling condition have to be properly ascertained and proper counseling and supportive therapy provided in order to improve the quality of life for the affected.....

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