Sickle cell anemia is an inherited blood disease. The word anemia is defined as meaning that the blood does not have the required number of red blood cells. These cells take on a crescent shape, which is where the disease takes its name from the abnormal sickle shapes of the cells. It is commonly found in people from Africa, the Mediterranean region, southern India and the Middle East. “This disease of the blood was first discovered in 1910 in a black college student from the West Indies. Later research showed that a child of parents with sickle cell anemia would have these cells in their blood, even though the parents were quite healthy. This led to the discovery that this condition is inherited and that the parents carried the recessive gene that caused it to occur in the children.”(Dr. Panadula Siirribaddana) About 8% of African Americans have sickle cell trait; that is, they are heterozygotes, usually symptomless carriers who have inherited a normal hemoglobin gene from one parent and hemoglobin-S from the other. There are also intermediate forms of the disease that result when a gene for hemoglobin-S is inherited from one parent and a gene for any of several other abnormal kinds of hemoglobin is inherited from the other. Genetic screening is recommended for prospective parents at risk of passing on the disease. If both parents are carriers (i.e., have sickle cell trait), then each child has a one in four chance of having sickle cell disease. http://www.answers.com/topic/sickle-cell-anaemia#ixzz1JYAmKXLc There are three common types of sickle cell disease in the United States. These include Hemoglobin SS (or sickle cell anemia), Hemoglobin SC, and Hemoglobin sickle beta-thalassemia. Each of these types of sickle cell disease can cause pain episodes and complications, but some are more common than others. Pain episodes are the most common complication of sickle cell disease. “The pain is related to a localized blockage of blood vessels, and can occur anywhere in the body. Pain episodes are often preceded by infection, dehydration, or certain chemical imbalances in body fluids. Pain usually has a gradual onset, but grows to a gnawing and sometimes excruciating pain. It can last from hours to many days and may wax and wane over this time.”(Harvard University) When children are young, the existence of this disease occurs in a series of crises. Sudden and severe pain in the limbs or stomach, back or chest may develop, which may or may not be accompanied by a fever. After the crisis has passed, the child appears well again until the next occurrence. After a child matures into adolescence and beyond, the incidences become fewer. Many teenagers have co symptoms whatsoever except for anemia, which leaves them without the energy to take part in many activities. In adults, it can lead to chronic disability. Sickle cell anemia can lead to a host of complications, including: Stroke, Acute chest syndrome (caused by sickle cells blocking blood vessels in your lungs, pulmonary hypertension (High blood pressure in the lungs that can be fatal), Organ Damage, Blindness, Skin Ulcers (Open sores on your legs), Gallstones, and Priapism (painful long-lasting erections).
There are no specific treatments for sickle cell anemia. Once it has been identified that these red blood cells exist and an attack occurs; patients are treated with oxygen, intravenous fluids and pain medication to relieve the discomfort. Sometimes, they may receive blood transfusions and antibiotics if there is an infection present. Blood transfusions give people more of the healthy red blood cells, which makes them feel better. People with sickle cell disease may receive blood transfusions to relieve pain or symptoms of the disease. They may also receive blood transfusions to prevent strokes, problems with their lungs, before certain surgeries, and to prevent complications with pregnancy. “Although transfusions can help improve the health of people with sickle cell disease, they add extra iron to the body that can build up over time. If you have sickle cell disease and have had 10 or more transfusions during your lifetime, then you are at risk for iron overload.”(Dr. William C. Shiel) Children with sickle cell anemia may begin taking the antibiotic penicillin when they're about 2 months of age and continue taking it until they're 5 years old. Doing so helps prevent infections, such as pneumonia, which can be life-threatening to an infant or child with sickle cell anemia. Antibiotics may also help adults with sickle cell anemia fight certain infections. Pain-relieving medications may be advised, like, over-the-counter pain relievers and application of heat to the affected area. Stronger prescription pain medication is needed for severe cases. When taken daily, Hydroxyurea reduces the frequency of painful crises and may reduce the need for blood transfusions. It may be an option for adults with severe disease.” Hydroxyurea seems to work by stimulating production of fetal hemoglobin — a type of hemoglobin found in newborns that helps prevent the formation of sickle cells. Hydroxyurea increases your risk of infections, and there is some concern that long-term use of this drug may cause tumors or leukemia in certain people.”(American Sickle Cell Anemia Association) A stem cell transplant, also called a bone marrow transplant, involves replacing bone marrow affected by sickle cell anemia with healthy bone marrow from a donor. A stem cell transplant is recommended only for people who have significant symptoms and problems from sickle cell anemia. “If a donor is found, the diseased bone marrow in the person with sickle cell anemia is first depleted with radiation or chemotherapy. Healthy stem cells from the donor are filtered from the blood. The healthy stem cells are injected intravenously into the bloodstream of the person with sickle cell anemia, where they migrate to the bone marrow cavities and begin generating new blood cells.” The procedure requires a lengthy hospital stay. After the transplant, drugs are given to help prevent rejection of the donated stem cells. A stem cell transplant carries risks. There's a chance that your body may reject the transplant, leading to life-threatening complications. In addition, not everyone is a candidate for transplantation or can find a suitable donor. (Medline Plus) Scientists are studying new treatments for sickle cell anemia, because sickle cell anemia is caused by a defective gene, researchers are exploring whether inserting a normal gene into the bone marrow of people with sickle cell anemia will result in the production of normal hemoglobin. “Scientists are also exploring the possibility of turning off the defective gene while reactivating another gene responsible for the production of fetal hemoglobin — a type of hemoglobin found in newborns that prevents sickle cells from forming.” “People with sickle cell anemia have low levels of nitric oxide in their blood. Nitric oxide is a gas that helps keep blood vessels open and reduces the stickiness of red blood cells. Treatment with nitric oxide may prevent sickle cells from clumping together.”(Genetics Home Reference) Until recently, people with sickle cell disease were not expected to survive childhood. But today, due to preventive drug treatment, improved medical care and aggressive research, half of sickle cell patients live beyond 50 years.
Works Cited Page
"MedlinePlus - Health Information from the National Library of Medicine." National Library of Medicine - National Institutes of Health. 3 Mar. 2011. Web. 15 Apr. 2011. <http://www.nlm.nih.gov/medlineplus/>. "Sickle Disease." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. 7 Apr. 2007. Web. 15 Apr. 2011. <http://ghr.nlm.nih.gov/>. "The Mutation in Hemoglobin." Information Center for Sickle Cell and Thalassemic Disorders. Havard University, 11 Apr. 2002. Web. 15 Apr. 2011. <http://sickle.bwh.harvard.edu/scd_background.html>. ASCAA, American Sickle Cell Anemia Association.Web. 14 Apr. 2011. <http://www.ascaa.org/>. Shiel Jr., William C. "Sickle Cell Disease." 2008. Web. 15 Apr. 2011. <http://www.medicinenet.com/>. Simbaddana, Dr. Pandula. "Understanding Sickle Cell Anemia." 17 Sept. 2010. Web. 14 Apr. 2011.