Sickle cell anemia is an inherited disorder of the blood where the red blood cells form an abnormal crescent shape. The Red blood cells deliver oxygen from the lungs to the body tissues are generally flexible and round, facilitating them to move easily through the blood vessels. Nevertheless, in individuals with sickle cell anemia, the texture and shape of the red blood cells can vary. They turn out to be sticky, hard and take the shape of a disc. The cells die prematurely, resulting to a deficiency of red blood cells (David, 2011).
Sickle cell anemia is passed through families as an autosomal. This means that the gene is not associated to a sex chromosome. Whenever a child is born, he or she has two genes that determine the constituent of the hemoglobin. Sequentially for sickle cell anemia to occur, a sickle cell gene ought to be inherited from both the father and the mother, so that the child has two sickle cell genes.
The inheritance of a single sickle gene is called "carrier" or sickle cell trait. Sickle cell trait does not ground to sickle cell anemia. Individuals with sickle cell trait more often than not do not have many indicators of disease and have normal life expectancies and hospitalization rates (Charache, S., et al. 1992). Sickle cell trait is present in 10% blacks of the population of United States. In some parts of Africa, one in five in some parts of Africa is a carrier for sickle cell trait. The diagram below illustrates the difference between a normal cell and a sickle cell.
Although there is no cure for sickle cell anemia, there are safety measures that prevent sickle cell crises and treatments to help in relief during painful crises. Some are used to reduce the number of crises, during a crisis, and to treat other impediment of the disease.
Generally, symptoms do not occur until after a period of four months. Nearly all patients with sickle cell disease experience crises, which can last from hours to days. These painful episodes can have an effect on the long bones, the chest and backbone. Some patients experience many episodes every few years. Others experience only once per year (Platt,1984). At times, the crises may be severe enough to necessitate a hospital stay.
Some of the Common symptoms include:
Puberty and delayed growth
Fatigue
Paleness
Yellowing of the skin and eyes
Fever
Rapid heart rate
Abdominal pain
Breathlessness
Bone pain
Skin ulcers
Chest pain
The goal of treatment is limit the number of crises, to control and to manage symptoms. Patients with sickle cell anemia need continuing treatment, even when they aren’t having a crisis. Supplements such as Folic acid, a vitamin needed in the making of the red blood cells ought to be taken. Treatment for a sickle cell crisis includes:
Regular Blood transfusions to prevent stroke
Plenty of fluids
Erythropoietin-medication that improves blood count
Pain medicines
Hydroxyurea medication that reduce the chance of the red blood cell changing to the sickle shape
Antibiotics-medication that prevents infection
Stem cell transplants or Bone marrow or can also cure sickle cell anemia. Nonetheless, they are currently not an alternative for most patients. Patients with Sickle cell anemia are often unable to find complementary donors.
Sickle-cell anemia, normally present in childhood, occurs more commonly in individuals from sub-tropical and tropical regions where there is widespread of malaria. One-third of all native inhabitants of Sub-Saharan Africa are carriers of the gene, since in regions where malaria is common, there is a suitability benefit in carrying a sickle cell trait. People with only one of the two alleles of the disease are more resistant to the infection and therefore show less severe signs when infected.
The genetic mutation that is accountable for sickle cell anemia first developed many thousands of years ago in Africa. Consequently, sickle cell anemia is most widespread among black African, black British, and black Caribbean people. The condition affects both males and female.
The prevalence of sickle cell anemia the United States is roughly 2 in 6,000, typically affecting Americans of Sub-Saharan African. In accordance to the National Institutes of Health in the USA, about 2 out of 600 African-American kids born will carry sickle-cell gene.
Since the early descriptions of sickle cell anemia, it has been clear that genotype of a single locus hardly ever completely predict phenotype. For instance, Asha is found to be heterozygous and for that reason a carrier of the gene. His wife is tested and found not to be a carrier of the same gene. The possible phenotype and genotype of their children would be
Genotypes: RR, Rr
Phenotypes: all children will not be affected since Asha is a carrier as a result his genotype is Rr. His wife is not a carrier consequently her genotype is RR.
Carrier x Non-carrier: Rr x RR
½ RR, unaffected, not carriers
½ Rr, unaffected, carriers
There have been major improvements in the treatment of sickle cell anemia over the last thirty years. Some time ago, life-threatening diseases, such as pneumonia or stroke were common, and many individuals with the conditions would die in early adulthood or childhood.
Taking care of our loved ones with sickle cell disease is not an easy task. Not only does it necessitate taking care of patients you love at home, but it also entails facing your own apprehension about the illness (William, 2011). It may be scary to find out that there is no cure, and you may be troubled about other relatives of the generation getting infected with sickle cell disease.
At the present time, following enhancement in preventative treatment, many of the complications associated with the disease can be prevented. The average life expectancy of a person with the sickle cell anemia is estimated to be 54-61 years of age. In the future, it is hoped that the life expectancy of people with the disease will persist to increase as the effectiveness of treatment gets better.
David, Z. (2011) Sickle cell anemia. Retrieved fromhttp://www.nlm.nih.gov/medlineplus/ency/article/000527.htm
William, C. Shiel Jr., MD, FACP, FACR (2011). Sickle Cell Disease(Sickle Cell Anemia)retrieved from
http://www.medicinenet.com/sickle_cell/article.htm
Charache, S., et al.( 1992). Hydroxyurea: effects on hemoglobin F production in patients with sickle cell anemia. Blood.
Platt, O. (1984). Hydroxyurea enhances fetal hemoglobin production in sickle cell anemia. J. Clin. Invest
