Sickle Cell Anemia In Children Term Paper Example
The purpose of this term paper is to provide comprehensive information about the inherited blood disease of sickle cell anemia, which affects newborns by means of a mutated gene passed on from their parents. That abnormal gene causes the child’s body to manufacture defective hemoglobin which is contained in red blood cells. As a result, those cells are sickle shaped instead of the normal circular shape, and pass less easily through the body’s blood vessels, impairing the flow of the needed oxygen. The body’s defenses destroy those bad blood cells, but at a faster rate than the body can create new cells, causing anemia. The paper includes sections on the derivation of the name of the disease, its causes, and the symptoms and effects on the children suffering from it, including various complications that might arise. Also, there are sections on how it is diagnosed and how it is treated with antibiotics and vaccinations, as well as daily doses of an oral medicine that causes the body to manufacture fetal hemoglobin, which isles likely to manufacture sickle cells. At present there is no widely available cure, although research to find a cure and improved treatments is ongoing.
The overall objective of this term paper is to provide information about sickle cell anemia, with the focus on children. Topics covered include the meaning of the name, the causes of the disease, the symptoms, diagnosis, and the treatments available.
The Meaning of the Name
The name comes from an effect of this inherited blood disorder, which is to alter the shape of the normal oxygen-bearing red blood cells (RBCs) in a person’s body, changing them to the shape of a sickle, which is the name of a curved hand-held cutting tool used in agriculture. The Figure below shows a normal (round) RBC and a sickle version:
Figure 1: Normal and Sickle RBCs
(Source: “Do You Know About Sickle Cell Anemia?”)
Because the body’s immune system recognizes the sickle cells as bad, it destroys them. However, because it is unable to create new RBCs fast enough, those affected have insufficient numbers of RBCs, which means they are anemic. Hence the full name of sickle cell anemia (“Do You Know About Sickle Cell Anemia?” n.d.).
Causes of Sickle Cell Anemia
Sickle cell anemia is the result of an abnormality in the gene that instructs a person’s body to manufacture hemoglobin, which is the red compound that is rich in iron and gives human blood its red color. The mutated gene causes the created hemoglobin to manufacture RBCs that are misshapen as previously described, as well as being more rigid and “stickier” than normal RBCs. Individuals who have that so-called sickle cell gene have inherited it from their parents in a specific inheritance pattern called “autosomal recessive inheritance.” Essentially, both parents need to possess and pass on that defective gene for their offspring to have the disease. If both parents have the sickle cell gene, then for any pregnancy, there is a 25 percent chance that the child will not be affected and will not carry the sickle cell gene. There is also a 50 percent chance of the child being a carrier, and a 25 percent chance that the child will have sickle cell anemia(“Sickle Cell Anemia: Causes” 2014). The following Figure illustrates these statistical probabilities in graphic form:
Figure 2: Sickle Cell Anemia: Inheritance Probabilities
(Source: “Sickle Cell Anemia: Causes” 2014).
If only one parent possesses that gene, there is a 50 percent chance of producing a normal (unaffected) child or an affected child who does not have the disease but is likely to produce a mixture of normal and sickle cell RBCs; a condition known as possessing the “sickle cell trait.” Such a child is less likely to have symptoms, but as a carrier of the disease can pass on the mutated gene to his/her own children (“Sickle Cell Anemia: Causes” 2014).
Symptoms of the Disease
Although sufferers of sickle cell anemia have it from birth, in many instances there are no obvious symptoms until the infant is at least four months old. The extent and degree of symptoms vary. In some cases the exhibited symptoms are mild, in others they can be sufficiently severe to require treatment in hospital. Most commonly, the symptoms are associated with anemia and with pain, although there can be other symptoms arising from complications (“What Are the Signs and Symptoms of Sickle Cell Anemia?” 2012).
Anemia-related symptoms. Fatigue (weakness or feeling tired) is the most common manifestation. Other anemic symptoms might include being short of breath or feeling dizzy, experiencing headaches, and the hands and feet feeling cold. The anemia may also show in the form of the skin being paler than usual or even by the yellowing of the skin or the whites of the eyes (jaundice) (“What Are the Signs and Symptoms of Sickle Cell Anemia?” 2012).
Pain-related symptoms. A common symptom is having sudden body-wide pain. That sudden and often severe pain is known as a sickle cell crisis which occurs when the sickle RBCs block the normal flow of blood to the limbs or the organs, which can not only cause pain but can damage the organs, too. The pain experienced might be acute – lasting for a few hours or perhaps for a week or longer – and can range from mild to extremely severe. Alternatively, and less commonly, the pain can be chronic in nature, enduring for much longer periods. It can be difficult to bear, mentally draining, and can impose restrictions on the sufferer’s everyday life. Painful sickle cell crises vary in frequency from person to person. Some may have a crisis around once a year or less frequently; others may have them as often as once every few weeks. Although various factors are thought to be responsible, avoiding dehydration can reduce the risk, so drinking plenty of fluids is advisable (“What Are the Signs and Symptoms of Sickle Cell Anemia?” 2012).
There are numerous complications which can arise for suffers of sickle cell anemia. These can include “hand-foot syndrome” which primarily affects children under four years old and is the result of blockage of the smaller blood vessels in the hands and feet. The disease can also affect the spleen which becomes enlarged, leading to the need for blood transfusions in severe cases. Damage to the spleen can also make infant and young children increasingly subject to infections, some of which can be fatal. Lung infections can also cause a condition called “acute chest syndrome” which is another condition that is potentially life-threatening. Damaged blood vessels within the lungs can also raise blood pressure in the lungs, inducing fatigue and shortness of breath. Blocked blood vessels can also cause problems elsewhere. It can cause strokes and blindness. Other complications include gallstones, leg ulcers (patients aged 10 or more), and – in rare but serious cases – multiple organ failure (“What Are the Signs and Symptoms of Sickle Cell Anemia?” 2012).
Early diagnosis is important. In the US, sickle cell testing is a standard part of the screening process for all newborn babies. If the test results indicate sickle hemoglobin is present, a second test is done as soon as possible – ideally within the first few months of the infant’s life. If required, a test can be done during pregnancy, by taking a sample of amniotic fluid or placenta tissue. Those in-pregnancy tests check for the presence of the sickle gene, rather than the sickle hemoglobin (“How Is Sickle Cell Anemia Diagnosed?” 2012).
There is no generally available cure for sickle cell anemia, although there are treatments available to provide relief of the symptoms and to deal with complications that arise. At present, the only possible cure for the disease is by means of transplants of blood and marrow stem cells. When an infant has been diagnosed as having sickle cell anemia, it is usually administered antibiotics and is given required vaccinations. Thereafter the parents receive education about the disease and guidance on managing it. That approach greatly improves the prognosis for the children affected. There are medications available for pain relief, including opioids which are prescribed in cases of severe pain. In instances where the sickle cell anemia is a severe form, a medicine called hydroxyurea administered orally on a daily basis helps the body manufacture fetal hemoglobin (the type newborn babies produce). That improves the condition by preventing the body creating sickle hemoglobin, improving the anemic condition. Overall, young children with sickle cell anemia need regular medical checkups, including appointments with a blood specialist. Potential future treatments include gene therapy and new medicines, and further research into transplant technology (“How Is Sickle Cell Anemia Treated?” 2012).
The research has facilitated the provision of comprehensive information about the inherited blood disorder of sickle cell anemia and has shown that it is a serious condition existing from birth, and which needs careful management and treatment to enable infants born with this disease to live a long and relatively normal life. Ongoing research is seeking better and more effective treatments and may lead to a reliable cure in the longer term.
“Do You Know About Sickle Cell Anemia?” (n.d.). Kids Health. Retrieved from: http://kidshealth.org/kid/health_problems/blood/sickle_cell.html
“How Is Sickle Cell Anemia Diagnosed?” (Sept. 2012). National Heart, Lung, and Blood Institute. Retrieved from: http://www.nhlbi.nih.gov/health/health-topics/topics/sca/treatment
“How Is Sickle Cell Anemia Treated?” (Sept. 2012). National Heart, Lung, and Blood Institute. Retrieved from: http://www.nhlbi.nih.gov/health/health-topics/topics/sca/diagnosis
“Sickle Cell Anemia: Causes.” (Jun. 2014). Mayo Clinic. Retrieved from: http://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/basics/causes/con-20019348
“What Are the Signs and Symptoms of Sickle Cell Anemia?” (Sept. 2012). National Heart, Lung, and Blood Institute. Retrieved from: http://www.nhlbi.nih.gov/health/health-topics/topics/sca/signs
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