I picked the topic on Sickle Cell disease since it is regarded as the most prevalent genetic causes of ailments and death worldwide. Sickle cell disease is a global problem affecting millions of children and adults in the United States and developing countries of African, Latin America, Asia, and Oceania. Sickle cell disease has a negative effect on psychological, physical, and emotional well-being a person with the disease. Sickle cell disease is a hereditary disorder that alters hemoglobin causing the red blood cell to become distorted and broken down. Sickle cell is caused by abnormal hemoglobin known as hemoglobin S. Hemoglobin S results from a deformity in the heredity that regulates the generation of beta globin part of hemoglobin hence changing the way hemoglobin works (Serjeant et al., 1992). According to Orah et al., 1994, the life expectancy of an individual with sickle cell disease currently is forty-eight years for women and forty-two years for men due to new and advanced medication for sickle cell disease which has prolonged and improve the quality of life for people with the disease.
The diagnosis of Sickle cell disease involves a blood test that analyzes for defected traits or hemoglobin by a technique called hemoglobin electrophoresis. Sickle cell disease screening can be detected during pregnancy or at birth. Currently, most advanced nations offer to screen for sickle cell disease to newborn babies shortly after birth. Blood screening for sickle cell disease is an element of baby blood spot test in most developed countries a procedure commonly known as heel prick test. Supposing the outcome is positive, a second test ought to be done to affirm the diagnosis (Vichinsky et al., 1988).
Expecting women can be given a screening test to check for the presence of defective genes which may cause sickle cell disease in the child. Also, a prenatal analysis of sickle cell disease in an unborn child can be made by testing the amniotic fluid around the fetus to check for the sickle cell traits (Vichinsky et al., 1988).
The manifestation of sickle cell disease occurs at the age of 6-12 months as the level of protection granted against the hemoglobin S caused abnormalities by the persistence of fetal hemoglobin in the newborn babies.
One symptom of the disease are episodes of pain known as pain crisis or vasco-occlusive crisis. These pain episodes develop when sickle cell obstruct blood vessels in bones. The pain occurs typically in the bones and joints. Abdominal pain can also occur due to obstruction of blood vessels in the abdomen by sickle cells. In children, the vasco-occlusive crisis is manifested by painful swollen small bones in the fingers and toes. Children with sickle cell disease may develop and grow slowly due to anemia (Serjeant et al., 1992).
Another symptom of sickle cell disease is acute chest syndrome caused by blocked blood vessels in the lungs. When this occurs, lung tissues get damaged hence cannot exchange oxygen well. At times, it can occur with lung infections. It happens typically after the vasco-occlusive crisis. Symptoms of acute chest syndrome may include febrile response, chest pain, hyperventilation, dyspnea, and cough (Serjeant et al., 1992).
Individuals with the sickle cell disease are prone to diseases. The spleen is critical for defense against germs and bacteria. Early in life, sickle cells can impair or weaken the functions of the spleen hence making individuals prone to bacterial infections like septicemia, pneumonia, meningitis, and osteomyelitis (Serjeant et al., 1992).
People with sickle cell disease can suffer from a stroke. A stroke ensues when due to blockage of blood flow to the brain by sickle cells resulting in brain damage or brain dead. Manifestation for stroke may include; a severe headache, loss of body balance due to the weakness of arm or leg, discord in walking, speaking, or understanding. Sickle cell individuals can also suffer from pulmonary hypertension. Pulmonary hypertension results from injury to blood vessels in the lungs which makes it difficult for the heart to pump blood through them thus causing the blood pressure in the blood vessels to rise. The manifestation of pulmonary hypertension includes fatigue and dyspnea. Also, male with sickle cell disease can have painful erection a condition known as priapism caused by blockage of blood flow in the erected penis by sickle cells (Serjeant et al., 1992).
Treatment and Prognosis
Treatment for sickle cell disease involves relieving symptoms, preventing complications, and avoiding crises. One technique for treating the disease is through stem cell transplantation. The process of stem cell transplantation entails exchanging the bone marrow affected by sickle cell disease with bone marrow from a matched donor with no sickle cell disease. Stem cell transplant is typically carried out on individuals younger than 16 years considering the risks increases for people older the 16 years. Furthermore, finding a donor for the bone marrow is difficult, and the practice has grave risks associated with it (Bunn,1997).
People with sickle cell disease can take medications such as antibiotics, hydroxyurea, and pain-relieving medicines. Taking antibiotics helps to prevent diseases which can be deadly to people with sickle cell disease. Children can start taking prescribed penicillin when they are about two months old and keep taking it until they are more than five years of age. For an adult, if his or her spleen is removed, or they had pneumonia, they might need to take antibiotics through there life. Furthermore, one can take prescribe pain-relieving medications for relieving pain during the pain crisis. Another medication for sickle cell disease is a hydroxyurea. Hydroxyurea decreases or prevents complications associated with sickle cell disease. Hydroxyurea work by increasing the fetal production hemoglobin that helps prevent the production of sickle cells (Bunn,1997).
Children with sickle cell disease also need vaccinations to prevent infections. They should receive all recommended infant vaccinations since the infections can be severe for them. These children should even get additional vaccines to avert other infections (Bunn,1997).
In some instances, physicians may use red blood cell transfusion to treat and repress sickle cell complications. Red blood cell transfusion involves removal of red blood cells from donated blood that has a normal hemoglobin, then giving it intravenously to an individual with sickle cell disease. Transfusion increases normal red blood cells count in circulation. The transfusions reduce vaso-occlusion and enhance oxygen transmission to the body tissues and organs (Bunn,1997).
Researches on Sickle Cell Disease
Currently, scientists are working on new experimental treatments for sickle cell disease. One study being done is in gene therapy. Scientists are researching on whether implanting a normal heredity into the bone marrow of a person with sickle cell disease will promote the generation the of normal hemoglobin. Furthermore, researchers are examining the possibilities of stopping the abnormal gene at the same time reviving the gene responsible for producing hemoglobin F.
Scientists are also exploring the possibility of using nitric oxide gas to treat sickle cell disease. Nitric oxide assists in keep blood vessels open and decrease the adhesiveness of red blood cells on the walls of blood vessels. The concentration of nitric oxide in the blood of a person suffering from sickle cell disease is usually low. Researchers are exploring the prospects of preventing clumping of red blood cells through treatment with inhaled nitric oxide.
Sickle cell disease is a critical disorder that must be tended to quickly. The number of individuals that think about sickle cell disease is alarmingly low and that must change. Individuals must become informed of the threats of sickle cell disorder and must do their best to help keep it from spreading. This illness can prompt passing in newborn children, kids, adolescents, and grown-ups. It is likewise a global disorder that necessities more consideration.
A cure is dependably the most required result for any disease. For this reason, studies that increases of a cure for sickle cell disease is a high importance. Stem cell transplantation is a treatment decision for an expanding, yet at the same time, a modest number of individuals with sickle cell disease. Significant dangers are included with the strategy, and it is not yet possible in the greater part of individuals with sickle cell infection. Albeit clinical trials have given promising outcomes, and cure has all the earmarks of being conceivable in a substantial extent of patients getting foundational microorganism transplantation extra research is yet required that tends to the potential dangers of this treatment before immature microorganism transplantation can turn into a generally utilized treatment.
Bunn, H. F. (1997). Pathogenesis and treatment of sickle cell disease. New England Journal of Medicine, 337(11), 762-769.
Serjeant, G. R., & Serjeant, B. E. (1992). Sickle cell disease (Vol. 3). New York: Oxford university press.
Vichinsky, E., Hurst, D., Earles, A., Kleman, K., & Lubin, B. (1988). Newborn screening for sickle cell disease: effect on mortality. Pediatrics, 81(6), 749-755.
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