Source
Abstract
Sickle Cell Disease is a life-long debilitating disease that affects nearly 100,000 Americans (Sickle Cell Disease). Sickle Cell Disease is most common among people of African, Caribbean, Indian, Mediterranean, Saudi Arabian and people of Central and South American descent. Many scientists attribute Sickle Cell Disease to being the result of an evolutionary response against malaria (University of Utah Health Sciences) The reason for this is because the majority of cases of Sickle Cell Disease are located in regions of Africa or exist in descendants of Africans who used to live in areas that had high levels of malaria infections (University of Utah Health Sciences). The disease occurs in 1 out of every 500 African American births and 1 out of every Hispanic American birth. (Sickle Cell Disease). 1 out of every 12 African Americans have the Sickle Cell Trait (Sickle Cell Disease).
Introduction
Sickle Cell Disease or Sickle Cell Anemia is an inherited blood cell disorder. Individuals affected by Sickle Cell Disease have abnormal hemoglobin or hemoglobin S/ sickle hemoglobin in the red blood cells. Hemoglobin is the protein in the blood that helps carry oxygen throughout the body. The disease gets its name from the fact that the cells of a person affected by Sickle Cell Disease look like a sickle which are rigid and sticky rather than a disk like normal cells. (NHLBI, NIH). The misshapen cells tend to get stuck in the small blood vessels inhibiting the flow of blood and oxygen to many parts of the body. The result of this is a pain and organ damage. Hemoglobin molecules consist of two parts an alpha and a beta. Individuals with Sickle Cell Disease have a mutation on a gene in their chromosome 11. (University of Utah Health Sciences) Chromosome 11 is the gene that codes for the “beta subunit of the hemoglobin protein” (University of Utah Health Sciences) This causes the molecules in the hemoglobin not to form properly.
Symptoms
The symptoms of sickle cell usually do not appear before an infant in 4 months old. (Mayo). According to the Mayo Clinic these symptoms include: (1) Anemia which is due to the fact that sickle cells are extremely fragile. This fragility causes them to easily break apart and die. Normal blood cells live for about a 120 days, sickle cell live only about 20 days before dying and having to be replaced (University of Utah Health Sciences). This means that there are not enough red blood cells, which makes it difficult for the person to receive an adequate amount of oxygen to their body. This results in chronic fatigue. (2) Delayed growth, which is caused by a lack of healthy red blood cells. Red blood cells are crucial in providing a person’s body the nutrients and oxygen that it needs to grow properly. (3) Hand- foot syndrome, which swelling in the hands and feet caused by the sickle shaped cell preventing proper blood flow from the extremities. Hand-foot syndrome is one of the earliest signs of Sickle Cell Disease. (4) Infections caused by sickle cells damaging the spleen. Since one of the functions of the spleen is to fight infections, damage to the spleen cause by sickle cell can cause a person to become more susceptible to infections. Doctors usually treat this by giving people with sickle cell a strict regimen of antibiotics and vaccines. (5) Pain aka crises is “a major symptom of sickle cell anemia” the pain is caused by the sickled cells blocking the flow of blood through the small blood vessels in the person’s chest, torso and bones. The pain can last anywhere from a couple hours to a few weeks and can result in a person needing to be hospitalized. (6) Vision problems which are caused by sickle cells blocking the tiny blood vessels in the person’s eye and damaging the retina.
Causes
Sickle Cell Disease is caused by a mutation on the 11 chromosome that results in rigid, sticky hemoglobin. Hemoglobin is made up of iron and it permits red blood cells to carry oxygen to all areas of your body from your lungs. When a person has Sickle Cell Disease the rigid, sticky misshapen cells prevent the body from receiving the oxygen it needs. The mutation that causes the illness is a hereditary autosomal recessive inheritance, which means that both parents have to carry either the trait or the disease in order for it to be passed on (University of Utah Health Sciences). So, if both parents have Sickle Cell Disease, then their children will have the disease, but if one parent has Sickle Cell Disease and the other has sickle cell trait their children have a 50% chance of inheriting Sickle Cell Disease and a 50% chance of inheriting Sickle Cell Disease and if both parents have sickle cell trait, then there is a 25% chance that their child will either be unaffected or have Sickle Cell Disease. There is also a 50% chance that their child will a carrier. A carrier has both a normal and defective gene, but they do not suffer the symptoms that are associated with the disease. However, they can pass it down to their children.
Risks and Complications
Sickle Cell Disease can result in a number of complications due to the lack of oxygen caused by inadequate blood flow (University of Utah Health Sciences). Some of these complications include: (1) Acute chest syndrome, which is a life threatening complication that causes fever, difficulty breathing and chest pains. Acute chest syndrome can be caused by either a sickle cells blocking the blood vessels in a person’s lungs or by a lung infection. (2) Blindness caused by the tiny blood vessels in the eyes becoming blocked by sickled cells. Eventually this damage may lead to permanent blindness. (3) Gallstones, which are caused by high levels of bilirubin. Bilirubin is a substance that is created during the breakdown of red blood cells. The breakdown of red blood cells happens at a much higher rate for people with Sickle Cell Disease than for people without. (4) Organ damage due to blocked blood flow to the organs. This deprives the organs of oxygen which can cause damage to the nerve cells and organs (University of Utah Health Sciences). This damage can be fatal. (5) Priapism or long lasting erections caused by a blockage of the blood vessels in the penis. This condition could lead to impotence. (6) Pulmonary hypertension causes fatigue and shortness of breath due to high blood pressure in the lungs and can be fatal. (7) Skin ulcers or open sores on the legs (8) Strokes which are a result of sickle cells blocking the flow of blood to a person’s brain.
Treatment
There is no guaranteed cure for Sickle Cell Disease even though, according to the Mayo Clinic a bone marrow transplant does offer a person suffering from Sickle Cell Disease a potential cure. The transplant has a number of risks, including death. Most sickle cell treatments prioritize pain relief, preventing complications and relieving other symptoms. Some of the treatments used to help with Sickle Cell Disease are blood transfusions. The need for which can be determined using a transcranial on children as young as two in order to determine the likelihood of a stroke.
If the doctor determines that the child is at high risk for a future stroke, they can treat them regularly with blood transfusions. It is also important for children with Sickle Cell Disease to be vaccinated, as this helps to reduce the chance of the child getting a life threatening infection. There are also some medications that help with Sickle Cell Disease, including (1) antibiotics, which help people with sickle cell fight infections (University of Utah Health Sciences ). (2) over the counter pain medication to relieve the pain of a crises (3) Hydroxyurea, this is a drug that reduces the frequency in which a person has painful crises. The drug has a number of side effects such as increasing a person’s risk of infections and long term use may cause tumors and/ or leukaemia, and oxygen treatments which can help a person to breathe properly when someone is in a crises or having acute chest syndrome. Sickle cell patients also take daily doses of folic acid, which helps to create new red blood cells and are advised to avoid strenuous activity, drink a lot of water and to get plenty of rest.
Conclusion
In conclusion sickle cell anemia/ disorder is caused by a mutation that causes the blood cells to form a sickle shape rather than a disk shape. The disease also causes the sickle cell to be rigid and sticky. This rigid stickiness makes it difficult for oxygen to get to where it needs to go. This is due to the sickle cells blocking or stopping blood flow. In order for a person’s body to function at optimal levels the cells must be able to get a constant supply of oxygen. When people are unable to get an adequate supply of oxygen to the cells in their body, their cells begin to die. For many people with sickle cell anemia the lack of oxygen causes severe pain called crises. Attacks of crises usually occur without warning and may require a hospital stay in order that the person gets the most effective treatment. Overtime the continual lack of oxygen can cause irreversible organ damage and a person suffering with Sickle Cell Disease may have to undergo an organ transplant.
The lifespan of a person with sickle cell has increased exponentially since the 1970’s when the lifespan of someone in the United States with Sickle Cell Disease was only 14 years. Today due to a number of medical advances the lifespan for a person with Sickle Cell Disease is 40-60 years. (NHLBI, NIH)
Works Cited
"Data & Statistics." Sickle Cell Disease. Centers for Disease Control and Prevention, 2015. Web. 23 Feb. 2016.
Mayo Clinic Staff. "Sickle Cell Anemia." - Mayo Clinic. Web. 23 Feb. 2016.
"Sickle Cell Disease." Sickle Cell Disease. University of Utah Health Sciences. Web. 23 Feb. 2016.
What Is Sickle Cell Disease?" - NHLBI, NIH. Web. 23 Feb. 2016.
