Works Cited

National Center for Biotechnology Information, U.S. National Library. “PubMedHealth”. Sickle Cell Anemia. 2 May. 2011

<http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001554/>

Nemours Foundation. “Teen Health”. Sickle Cell Anemia. 2 May. 2011

<http://kidshealth.org/teen/diseases_conditions/blood/sickle_cell_anemia.html>

U.S. Department of Health and Human Services. “National Heart Lung and Blood Institute”. Sickle Cell Anemia. 7 May. 2011<http://www.nhlbi.nih.gov/health/dci/Diseases/Sca/SCA_Treatments.html> 

Research

          Since sickle cell anemia is not cured yet scientists are always researching about the disease to develop new ways to help people. New treatments that have been discovered are hydroxyurea (helping reduce the pain of the disease) and bone marrow transplants. Although bone marrow transplants are very complex and are risky, it is currently the only treatment for sickle cell anemia for now. Another treatment scientists are studying is gene therapy. The scientist’s goal is to one be able to stop the disease by changing or replacing the abnormal gene that causes sickle cell anemia.

          Scientists have learned is that sickle cell anemia may be caused by a genetic mutation that happened in malaria-prone regions (like Africa) thousands of years ago. It is thought that people with the sickle cell anemia trait may have been more likely to survive the malaria. Since they survived the malaria it is possible that it allowed the trait to be passed down through generations.

          Research has shown that we now know the gene that causes sickle cell anemia. The gene for sickle cell anemia is found on chromosome 11. The official gene symbol is HBB. HBB codes for the beta chain (found in adult hemoglobin), which is often referred to as beta globin. Abnormal beta globin is responsible for the sickling of red blood cells found in sickle cell anemia patients. Since the abnormal hemoglobin doesn’t carry sufficient oxygen to the red blood cells they become sickle shaped.

Activities: Do's and Don'ts

          Teens with sickle cell anemia can do the majority of what other teens can do. Since Brandon and I are so close in age, we always hang out together and do a lot of things together. The difference is that Brandon always has to be in good shape to stay as healthy as possible. He eats a balanced, healthy diet and takes medicine, including folic acid supplements as prescribed. Brandon always carries a water bottle with him to keep him from getting dehydrated. During the winter he stays home a lot because it’s not good for him to be in extreme cold, and during the summer on the very hot days its not safe for him to be outside either. Brandon plays a lot of soccer year-round to stay in shape. Sometimes when he exercises too much he gets a pain crises because he gets exhausted and overheated. Becoming very stressed can also cause the crises. In order to prevent Brandon from getting to stressed out he always has open note tests and doesn’t take finals at the end of the year to minimize his stress levels. Luckily, in my house we all have our own separate bedrooms, but my parents keep a baby monitor in Brandon’s room because having a sleep problem can also cause the crises. Brandon snores a lot in his sleep and sometimes just stops breathing for short periods of time.

           The next day instead of going to practice he stays home to rest and cool down and drinks lots of water; sometimes he has to go to the hospital to get checked out when the pain doesn’t go away. Brandon has a strict curfew because he needs to get a lot of rest. When we go to high school parties it is very important that he doesn’t drink, it is my job to make sure of it so we always stay together whenever we go to a party. Not only is alcohol really bad for him, so are drugs and smoking. Luckily Brandon hates the smell and thinks smoking and drugs are gross. He tries to stay away from the people who do smoke because they can cause very bad lung problems. During the summer we don’t go to the beach all that often because it’s not good to be under the water to much and he has to avoid places with low oxygen. Every year the whole family goes to the doctor and gets immunizations to avoid getting sick, it’s especially bad if Brandon gets sick and had a fever over 101° F. If he does, my parents take him straight to the hospital to have him checked by the doctor. Brandon always tries to have a positive look on life and not to let the disease upset him all that often.

Treatment

          Although there is not yet a cure for sickle cell anemia, there are many treatments available for its symptoms. The treatments available are used to alleviate the pain, ward off infections, organ malfunction, and strokes. The treatments can also prevent further complications of sickle cell anemia, if they were to occur. Fortunately, there are a small number of people with sickle cell anemia that are able to be cured with the blood and marrow stem cell transplants. The doctors who specialize in the disease are Hematologists, or blood specialists.

          Additionally, infants who are diagnosed through newborn screenings can be treated with antibiotics to help prevent further infections. The antibiotics used for treatment have positively impacted the outcome for these children.

          Depending on the severity of the pain you have, there are several options of medications to use. The typical treatments are pain medications and fluids. If your oxygen level is low it is possible to receive oxygen therapy. If the pain is harsher, you may want to be treated in a day clinic, emergency room, or hospital. For mild pain there are over the counter medicines such as, heating pads and ibuprofen (Motrin, Advil), and acetaminophen (Tylenol). For more severe pain stronger medication may be needed. A stronger medication option is opioids. If you are interested in these drugs talk with your medical provider about receiving them and the associated risks and benefits of taking them.

          For severe sickle cell anemia you can get treated with hydroxyurea medication. This medication is used to have your body make fetal hemoglobin. Fetal hemoglobin is known as Hemoglobin F and is the kind of hemoglobin newborns have. The Hemoglobin F is used to prevent red blood cells from sickling and improves anemia. The medication is given daily and reduces the painful pain crises, and acute chest syndrome occurrence. Taking hydroxyurea causes you to need fewer blood transfusions and less hospital visits. Today, doctors are studying the long-term affects of hydroxyurea. Studies have shown that the hydroxyurea can help improve growth and preserve organ function in children, but this has not been proven 100 percent. If interested in hydroxyurea and have a severe sickle cell anemia condition talk to your medical provider.

Story of Diagnosis and Progression of Symptoms and change

          You should contact your medical provider for a diagnosis, but before you go to your medical provider, you will have symptoms to lead you up to the point of seeing your medical provider. When you meet with your doctor, your blood count will be checked for blood oxygen and white blood cell count; your urine will be analyzed for possible blood which could be present.

         Over time having sickle cell anemia, may cause the symptoms to progress and complications may develop. Teens with the disease may develop jaundice (jon-dis). Jaundice is an illness that is an effect of the high rate of red blood cell breakdown. This can give rise to the skin and white part of the affected one’s eyes to develop a yellowish tint. People may also encounter complications from the damaged blood circulation and infection-fighting problems. These include having a higher risk of infections and stroke. Another condition that is possible to have is acute chest syndrome, which occurs because of redness, infection, or blockages of blood vessels in the lungs. Other complications of sickle cell anemia include blindness and vision problems, poor spleen function, bone infections, and Parvovirus B19 (low red blood cell production).

          It is possible to treat these complication. Acute chest syndrome (also known as acute multiple organ failure if the liver, and kidneys fail suddenly) is a serious and life-threatening complication to sickle cell anemia. The treatment for this complication is done in the hospital and can include oxygen therapy, blood transfusions, antibiotics, and balancing body fluids.

         To prevent these complications, blood transfusions are frequently used to handle worsening anemia and other sickle cell anemia complications. If your condition of an immediate anemia because of an infection or an enlarged spleen it is a standard reason for a blood transfusion. The blood transfusions are used to thwart life-threatening problems such as a stroke, spleen difficulties, or acute chest syndrome.

Symptoms

          Just like any other disease or even the common cold, an affected person has symptoms. Sickle Cell Anemia is not contagious, meaning, you cannot “catch’’ it from another person or pass it on like the common cold or another type of infection. To be diagnosed with sickle cell anemia, a person must have genes inherited from both parents. A child with only one gene will not develop the disease, but will be a carrier for the trait and could pass it on to future offspring. Since people with the sickle cell trait don’t have the disease, they may never know that they are a carrier for the gene. Today, it is recommended that teens who not aware of their status should ask their doctors about testing. The National Institutes of Health (NIH) suggests that all infants should be screened for sickle cell anemia. Testing at birth is now mandatory in every state. Doing this, helps infants with sickle cell anemia get the help and therapy they need immediately.

          Luckily, Brandon, my family and I all got tested. We now know that my mother is a carrier because her grandmother was a carrier, my father is not affected or a carrier but his grandfather had it, my older sister and I are carriers, and my brother is the only one in my family that has sickle cell anemia.

          The symptoms for sickle cell anemia do not usually begin until a child is four months old. A common symptom of sickle cell anemia is to have pain crises (bouts). The pain crises vary how long they last and how severe they are. The pain crises can happen once a year, or several times a year, or just a few days or weeks, it is possible for them to last for a few hours. They are moments of severe pain in the chest (lungs), stomach, arms, and legs or other parts of the body. Symptoms can occur in any body organ or tissue and can make you feel very achy. These pain crises happen because of the sickle shaped red blood cell that block off the blood flow through tiny blood vessels. If the pain becomes too intense it is possible to require hospital treatment. Another common symptom is feeling very tired an having difficulty fighting off infections; these two symptoms are very common with teens. Teens that are affected by sickle cell anemia may grow slower than others and reach puberty at a later age then healthy teens would.

Hemoglobin and Hemoglobin S

          The cause of Sickle Cells Anemia is an abnormal type of hemoglobin, called hemoglobin S. Hemoglobin is a protein inside of red blood cells that carries oxygen. SSA changes the structure of the red blood cells, particularly when exposed to low oxygen levels. The disfigured red blood cells are then shaped to look like sickles, and are sticky, stiff and more delicate. The effect of having the blood cells out of shape causes the red blood cells to deliver less oxygen to the body’s tissues, and they then have a tendency to clump together. The red sickle blood cells clog more easily in smaller blood vessels, and snap into pieces that interfere with normal blood flow. The red blood cells that contain Hemoglobin S switch back and forth from being normally shaped and sickle shaped, until the cells eventually become sickle shaped permanently. A normal red blood cell can survive until about four months in the bloodstream, unlike the delicate sickle shaped cells that can break down after only 10 to 20 days which can cause anemia. Anemia is when the body’s number of red blood cells or quantity of hemoglobin drops to be less than normal. People who are diagnosed to be anemic have the symptoms of weakness and they tire more easily than those with normal hemoglobin levels.