A genetic disorder is an illness that is caused by abnormality in a person’s DNA. There are different types of genetic disorders. One of these known genetic diseases is sickle cell anemia. Sickle cell anemia is a genetic disorder in which an individual’s body produces abnormally-shaped red blood cells. These cells appear to be in crescent or sickle shapes that lead to anemia. The sickle cells block blood flows because they get stuck in blood vessels. The organs of a person are damaged due to this abnormal flow of blood in his or her body (U.S. Library of Medicine, Sickle Cell Anemia, nlm.nih.gov). Also, the abnormal sickle cells usually die after only about 10 to 20 days. The dying cells are not replaced because the bone marrow cannot make new red blood cells fast enough (National Institutes of Health, What is Sickle Cell Anemia? nhlbi.nih.gov).
Sickle cell anemia commonly affects African-Americans in the United States. Based on statistics, in every 500 African-American babies born in the United States, one turns out with a sickle cell anemia disease. Sickle cell disorder is also most common among individuals in Africa, India, the Caribbean, Middle East, and the Mediterranean. Sickle cell anemia is said to be prevalent in these regions because carriers of a mutation in the beta-subunit of hemoglobin are more resistant to malaria (The University of Utah, Sickle Cell Disease, learn.genetics.utah.edu).
Like blood type, eye color, and other physical traits, sickle cell conditions are inherited from parents. A person’s production of hemoglobin in his or her red blood cells depends on what haemoglobin is passed down by parents (News Medical, Sickle-Cell Disease Genetics, news-medical.net). Sickle cell disease is inherited in an autosomal recessive pattern, wherein an abnormality only occurs when both parents have abnormal genes. If both parents are carriers, it means that a baby has 25 percent chances of inheriting the disease. Both parents must pass down a defective copy of the gene s that a child will inherit the disease (The University of Utah, Sickle Cell Disease, learn.genetics.utah.edu).
Hemoglobin is a significant protein in the red blood cells. Hemoglobin is crucial in transporting oxygen from the lungs to the rest of the body. Normally, red blood cells are round and flexible so they can travel freely through the narrow blood vessels. In sickle cell anemia, they are misshaped. The hemoglobin molecule has two parts. They are alpha and beta. Patients with sickle cell disease have a mutation in a gene on chromosome 11 that codes for the beta subunit of the hemoglobin protein. As such, the hemoglobin molecules are not formed properly. This cause the rigidity and concave shape of the red blood cells. When stuck in blood vessels, oxygen is not transported in the organs properly; thus they get damaged (The University of Utah, Sickle Cell Disease, learn.genetics.utah.edu).
The most common symptoms of sickle cell anemia are pain and fatigue. People who have this disease often have shortness of breath, dizziness, headaches, or coldness in the hands and feet. Children with sickle cell diseases are very susceptible to infections. This is because their damaged spleens are unable to protect the body from bacteria. Impaired lung function can also occur in young ages. Children with sickle cell disease live longer. However, older patients now experience long-term adverse effects of the disorder. The most serious dangers are acute chest syndrome, long-term damage to major organs, and stroke. Among women, sickle cell anemia can cause complications during pregnancy. It can also lead to high blood pressure and low birth weight among babies (The New York Times Company, Sickle Cell Anemia, nytimes.com).
A blood test can be done to show if a person has sickle cell anemia. The newborn screening is done nowadays to determine if newborns have sickle cell anemia. There is no available cure for sickle cell anemia, but treatments can relieve symptoms and lessen complications (U.S. Library of Medicine, Sickle Cell Anemia, nlm.nih.gov).
Meanwhile, to prevent infections among babies and young children with sickle cell, a daily dose of penicillin is recommended. Penicillin can prevent deadly infections among children with sickle cell anemia. Aside from this, folic acid is also needed to build new red blood cells among patients. Rest and avoidance of strenuous physical activities are also recommended among patients with sickle cell anemia. Blood transfusion is also a common treatment among patients. This provides a patient with healthy red blood cells that he or she needs. A bone marrow transplant is done to patients with severe cases of the disease. A bone marrow transplant from a sibling is the ideal procedure for patients with sickle cell anemia. Transplants provide patients with healthy red blood cells (U.S. Library of Medicine, Sickle Cell Anemia, nlm.nih.gov).
According to the U.S Library of Medicine, researchers are also looking into new treatments such as blood and marrow stem cell transplants, gene therapy, and new medicines to cure this disease (U.S. Library of Medicine, Sickle Cell Anemia, nlm.nih.gov).
Sickle cell is a life-long disease. Medical experts and researchers are looking for new and aggressive treatments for the disease, aiming to prolong life among patients and improving their way of living. In the 70s, the average lifespan for people with sickle cell disease was only 14 years. With advances in science and treatments, life expectancy for sickle cell anemia now reach 50 years and over. It was also known that women with sickle cell anemia now live longer than men with the disease (The New York Times Company, Sickle Cell Anemia, nytimes.com).
National Institutes of Health, What is Sickle Cell Anemia? Web. n.d. 11 November 2013.
News Medical, Sickle-Cell Disease Genetics. Web. n.d. 11 November 2013.
< http://www.news-medical.net/health/Sickle-Cell-Disease-Genetics.aspx >
The New York Times Company, Sickle Cell Anemia. Web. n.d. 11 November 2013.
< http://health.nytimes.com/health/guides/disease/sickle-cell-anemia/prognosis.html >
The University of Utah, Sickle Cell Disease. Web. 11 November 2013.
< http://learn.genetics.utah.edu/content/disorders/whataregd/sicklecell/ >
U.S. Library of Medicine, Sickle Cell Anemia. Web. 11 November 2013.
< http://www.nlm.nih.gov/medlineplus/sicklecellanemia.html >