We are going to speak about the pros and cons of genetic testing and the protections in place for those who have genetically caused diseases.

We are going to speak about the pros and cons of genetic testing and the protections in place for those who have genetically caused diseases. Please also consider sharing whether you would be genetically tested for a disease and why or why not. This is real life! the topic is about sickle cell disease Sickle cell disease is present at birth, but most infants don’t show any signs until they are more than 4 months old. Symptoms of sickle cell disease vary. In some people, they are mild, in others severe and requiring hospitalization. The most common signs and symptoms are linked to anemia. Anemia is a condition in which blood has a lower than normal number of red blood cells. People with anemia do not have enough red blood cells, which deliver oxygen. As a result, they may feel tired or weak. Fatigue is one of the most common symptoms of sickle cell anemia. Severe or long-lasting anemia can damage the heart, brain, lungs, kidney, spleen, and other organs of the body. Very severe anemia may even cause death. Many people with sickle cell disease live with chronic pain, especially in their bones. However, sudden pain that can occur anywhere in the body is also a common symptom of sickle cell disease. This pain is called a”sickle cell crisis.” Sickle cell crises often affect the bones, lungs, abdomen, and joints. Other symptoms of sickle cell disease include: Shortness of breath and/or dizziness Headache Coldness in the hands and feet Pale skin due to anemia Jaundice, or yellow eyes and skin Chest pain Leg ulcers that do not heal Diagnosis Early diagnosis of sickle cell disease is very important because many complications can be prevented with early diagnosis and treatment. Sickle cell disease and sickle cell trait can be diagnosed with a simple blood test. In the United States, all state governments require testing for sickle cell disease as part of their newborn screening programs. The test uses blood from the blood samples used for other routine newborn screening tests. It can show whether a newborn infant has sickle cell disease or sickle cell trait. If the test shows sickle hemoglobin, a second blood test is done to confirm the diagnosis. It’s also possible for doctors to diagnose sickle cell disease before birth. This is done using a sample of amniotic fluid or tissue taken from the placenta. (Amniotic fluid is the fluid in the sac surrounding a growing embryo. The placenta is the organ that attaches the umbilical cord to the mother’s womb.) This test can be done in the first few weeks of pregnancy. Treatment The goals of treating sickle cell disease are to prevent or relieve pain; prevent infections, organ damage, and strokes; treat anemia; and control complications. Some doctors and clinics specialize in treating people who have sickle cell disease. Hematologists specialize in treating adults and children who have blood diseases and disorders. Treating Pain Mild pain is often treated with over-the-counter medicine and heating pads. Severe pain may need to be treated in a hospital. The usual treatments for acute (short-term) pain crises are fluids and pain-controlling medicines. Fluids help prevent dehydration, a condition in which the body doesn’t have enough fluids. Fluids are given either by mouth or through a vein. Common medicines used to treat pain crises include acetaminophen, nonsteroidal anti-inflammatory drugs (NSAIDs), and narcotics. Treatment for mild to moderate pain usually begins with NSAIDs or acetaminophen. If pain continues, a narcotic may be needed. Moderate to severe pain is often treated with narcotics. The narcotic may be used alone or with NSAIDs or acetaminophen. Preventing Pain Those with more severe sickle cell anemia may benefit from daily administration of a medicine called hydroxyurea. This medicine may help reduce the number of painful crises. Hydroxyurea is used to prevent painful crises, not to treat them when they occur. Preventing Infection Bacterial infections can be a major complication of sickle cell disease, but often they can be prevented or treated. If a child who has sickle cell disease shows early signs of an infection, such as a fever, difficulty breathing, or localized bone pain, treatment should be given right away. To prevent infections in babies and young children, treatments include: Daily doses of penicillin. Treatment may begin as early as 2 months of age and continue until the child is at least 5 years old. All routine vaccinations (including a yearly flu shot), plus vaccination(s) against streptococcus pneumonia. Adults who have sickle cell disease should also receive flu shots every year and get vaccinated against pneumococcal infections. Both adults and children are at risk for a variety of infections, such as pneumonia and bone infections. They should be examined whenever they experience fevers, since early diagnosis and treatment result in better outcomes. Preventing Complications Complications from sickle cell disease can include gallstones, lung crises (acute chest syndrome), pulmonary hypertension, stroke, leg ulcers that don’t heal, and eye damage. Blood transfusions are commonly used to treat worsening anemia and sickle cell complications. Most patients with sickle cell disease have at least occasional blood transfusions. Patients with severe complications–such as stroke and acute chest syndrome–may require months or years of regular transfusions every three to four weeks to prevent ongoing damage. Hydroxyurea treatment may be helpful in reducing crises and the need for transfusions. People with sickle cell disease should have regular checkups to detect eye damage. And a simple ultrasound test of the head can identify children at high risk for strokes. Recent Developments Research on bone marrow transplants, gene therapy, and new medicines for sickle cell anemia is ongoing. The hope is that these studies will provide better treatments for sickle cell disease. Researchers also are looking for ways to predict the severity of the disease. Bone Marrow Transplant Bone marrow transplants can cure sickle cell disease. Because the procedure has significant risks, transplants are not appropriate for every patient. Bone marrow transplants are used primarily in young patients who have severe sickle cell disease. However, the decision to give this treatment is made on a case-by-case basis. Bone marrow used for a transplant must come from a closely matched donor. This is usually a close family member who doesn’t have sickle cell disease. Researchers continue to look for ways to reduce the risks of this procedure and to widen its application. Gene Therapy Scientists are studying gene therapy as a possible treatment for sickle cell disease. Researchers want to know whether a normal gene can be put in the bone marrow of a person who has sickle cell disease. This would cause the body to make normal red blood cells. Researchers also are studying whether they can”turn off” the sickle cell gene or”turn on” a gene that makes red blood cells behave more normally. New Medicines Researchers are studying several new medicines for sickle cell anemia. Some of these interfere with sickling of hemoglobin, others prevent the cells from sticking to blood vessel walls, and some raise levels of the hemoglobin present before birth–fetal hemoglobin.

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