Its Use In Sickle Cell Disease example essay topic

Health maintenance for patients with sickle cell disease starts with early diagnosis, preferably in the newborn period and includes penicillin prophylaxis, vaccination against pneumococcus bacteria and folic acid supplementation. Treatment of complications often includes antibiotics, pain management, intravenous fluids, blood transfusion and surgery all backed by psychosocial support. Like all patients with chronic disease patients are best managed in a comprehensive multi-disciplinary program of care. Promising Treatment Developments In search for a substance that can prevent red blood cells from sick ling without causing harm to other parts of the body, hydroxy urea was found to reduce the frequency of severe pain, acute chest syndrome and the need for blood transfusions in adult patients with sickle cell disease. Hydroxyurea is a well-known drug, however its use in sickle cell disease is relatively new and must be approached with caution. Short-term side effects must be carefully monitored and long-term effects are still unknown.

(Harris. 2001) Estimated total of U.S. sickle cell patients is 65,000. Percent with severe pain 3-5 times per year is 5.2%. Estimated number with frequent severe pain is 3,380 patients. Assuming the average annual number of episodes is 4.

The total number of severe pain episodes in these patients 13,520. Assuming that 50% episodes result in hospitalization 6,760. Assuming the average days of hospitalization is 5. Estimated total number of hospital days for these patients 33,800.

Assuming cost per day $800. Total hospitalization costs for these patients $27,040,000. Potential savings from use of hydroxy urea in these patients in one year - $13,520,000. Estimates of sickle cell disease patients in the U.S. are now over 70,000. In the US there were approximately 65,000 African-Americans suffering from sickle-cell disease. There were about 5,500 British (mostly Negroes) sufferers.

Worldwide, 100,000 babies are born with the disease annually. Sickle cell anemia results when a person inherits two genes for sickle hemoglobin, and is homozygous for the mutation. American-Africans are the most likely to develop sickle cell anemia. Hemoglobin is composed of two pairs of peptide chains: two alpha chains and two beta chains.

Sickle hemoglobin results from a point mutation in the beta-globin gene. This single nucleotide change produces a single amino acid change: a acid at position 6 has been changed to a valine, according to the following schedule. COOH CH - (CH 2) 2-COOH Glutamic acid / NH 2 COOH CH 3 | CH - CH-CH 3 Valine / NH 2 Glutamic acid is, as the name says, an acidic amino acid, which means it will have a negative charge under normal body conditions and thus likes to be surrounded by water molecules. Valine, on the other hand, is a neutral, or uncharged, amino acid. Under normal conditions it behaves like a hydrophobic, organic molecule and wants to hide from water. This difference makes the globin chains of hemoglobin fold differently, especially in the absence of oxygen.

Normal hemoglobin just gives up its oxygen when it gets to the tissue that needs it, but it retains its shape. Sickle hemoglobin, on the other hand, loses its oxygen, and becomes relatively insoluble. In the deoxygenate d form, it forms into long arrays that come out the shape of the red cell and produce the characteristic sick ling that characterizes the disease. The insolubility of deoxygenate d (reduced) sickle hemoglobin is the basis of two rapid diagnostic laboratory tests for sickle cell anemia. Scientists recently have had some limited success in using genetic engineering techniques to get good copies of the beta globin gene into people with sickle cell anemia. If they can succeed in this endeavor, people with the disease may be cured but will still be able to pass the genes onto their offspring.

(Whitten. 1989)

Bibliography

1) Bloom, Miriam. Understanding Sickle Cell Disease. University of Mississippi Press. 1995 2) Serjeant, Graham R.
Md. ; Serjeant, Beryl E. Sickle Cell Disease. Oxford Press; 2001 3) Ball as, Samir K.
Sickle Cell Pain. International Association for the Study of Pain; 1998 4) Harris, Jacqueline L.
Sickle Cell Disease. 21st Century Books; 2001 5) Whitten, Charles F.
Beatles, John F. Sickle Cell Disease. New York Academy of Sciences; 1989.