Introduction
This is a disease that affects the hemoglobin. When hemoglobin is affected, oxygen cannot be transported to the rest of the body and chances of death are usually very high. People suffering from this disease have special hemoglobin known as hemoglobin S. For this reason, the disease is only common in some individuals. Most of the symptoms start to emerge at a very tender age and become observable as the child grows.
Inheritance
Inheritance of the disease results from an autosomal recessive pattern. In this genetic pattern, all copies of the gene in the cells are found to be mutated. Parents carry one copy of the mutated gene and once the recessive copies combine, a mutation is developed. While the parents may carry along the recessive autosomal genes, the condition cannot be manifested in them until both copies combine (Schwartz, Radcliffe, Barakat 2007, p. 270). Parents are therefore carriers of the mutated genes and it is only when the genes interact during a child’s development that the condition becomes manifested. Both parents must therefore carry recessive autosomal genes for the condition to manifest in their offspring.
Prevalence
According to the World Health Organization (2006, p. 1), around 5 % of the population carries recessive mutated genes responsible for causing sickle cell anaemia. Every year, there are reported cases of more than 300, 000 children born with hemoglobin disorder. Out of this, over 200, 000 children are from Africa, a continent most affected by the disease (World Health Organization 2006, p. 1). The carriers are many than the sick individuals and this is a major concern because of the potential harm they can cause to their offspring.
Sickle cell anaemia is prevalent in sub Saharan Africa, India, Saudi Arabia and the Mediterranean countries. Due to the increased migration, other continents have also started recording several cases of sickle cell anaemia. In some African countries, over 2 % of the children are born with the mutation, with healthy carriers ranging from 10% to 40 % across equatorial Africa.
Mechanism
In a normal person, the red blood cells are disc shaped, and they normally look like doughnuts. The doughnut-shaped cells have no holes at the center and carry iron-rich proteins called hemoglobin. The role of the hemoglobin is to carry oxygen from the lungs to the rest of the body, but in a patient suffering from sickle cell anaemia, the red blood cells contain abnormal hemoglobin known as sickle hemoglobin, or hemoglobin S. Unlike the disk shaped cells in a normal person, the affected individual has crescent, or sickle-shaped red blood cells. Hemoglobin S, a sticky and stiff substance, and is the one responsible for this condition (Taylor, Nolan, Mendelsohn, Kato, & Gladwin 2008, p. e2095). The stiffness and stickiness of hemoglobin S draws the edges together to create the sickle or crescent shape of such red blood cells.
The crescent shape formed by the hemoglobin S blocks oxygen from flowing into other parts of the body, especially the limbs and internal organs. The organs get damaged because of the blocked flow of blood resulting into pain. Once the red blood cells are affected, the sickle-shaped cells do not last for long. This makes the number of red blood cells to drop and since the bone marrow cannot immediately replace the depleted cells, an individual has to survive on reduced numbers of red cells (Gil et al. 2000, p. 230).
Symptoms
One of the major symptoms is pain in the joints and other major body parts like the chest. The pain is caused by the blocked oxygen that is prevented from reaching the rest of the body. This pain can be interpreted as an acute symptom associated with various organ crises. Chest, abdominal and joint pain are common symptoms in sickle cell anaemia. In addition, the heart rate increases causing a condition known as tachycardia. The increased heartbeat is meant to force the blood into the regions receiving deoxygenated blood.
The heart tries to compensate for the low-oxygen blood by pumping more blood and this causes an increased heartbeat (Orah 2008, p. 1365). Fatigue is also common due to reduced oxygen. The available oxygen received by the organs has to be recycled and this causes organs to wear off, causing fatigue. Fever, excessive thirst and difficulty in breathing are other symptoms common in a patient suffering from sickle cell anaemia. While some of these symptoms may be short-term, there are long-term ones that help practitioners in identifying sickle cell anaemia patients.
The long-term symptoms include paleness of the skin and eyes. In addition, individuals are found to suffer from jaundice and ulcers. In some cases, children also experience delayed puberty and blindness. Stroke may also occur because of limited oxygen supply to the brain. Confusion and loss of consciousness is another symptom that can be identified in such patients. Inability to speak is also common among some of the patients. Frequent urination and loss of vision or blurred vision has also been reported among the patients.
Treatment
Although there is no specific cure for this disease, some of the symptoms can be cured. When identified at an early stage, the complications can be prevented by reducing the side effects. Medical intervention and frequent checkups may assist in identifying any manifestation and dealing with it comprehensively (Thomas & Taylor 2002, p. 350). Bone marrow transplant and stem cell therapy are considered as some of the most effective ways of treating sickle cell anaemia. However, these options are very expensive and risky and are therefore not considered as viable options by many people.
References
Gil, KM, Porter, L, Ready, J, Workman, E, Sedway, J and Anthony, KK 2000, ‘Pain in children and adolescents with sickle cell disease: An analysis of daily pain diaries’, Child Health Care, vol. 29, no. 4, pp. 225-241.
Orah, SP 2008, ‘Hydroxyurea for the Treatment of Sickle Cell Anemia’, New England Journal of Medicine, vol. 358, pp. 1362-1369.
Schwartz, LA, Radcliffe, J, Barakat, LP 2007, ‘The development of a culturally sensitive pediatric pain management intervention for African American adolescents with sickle cell disease’, Child Health Care, vol. 36, no. 3, pp. 267-283.
Taylor, JG, Nolan, VG, Mendelsohn, L, Kato, GJ & Gladwin MT 2008, ‘Chronic Hyper-Hemolysis in Sickle Cell Anemia: Association of Vascular Complications and Mortality with Less Frequent Vasoocclusive Pain’, PLoS ONE, vol. 3 no. 5, pp. e2095.
Thomas, VJ & Taylor, L 2002, ‘The psychosocial experience of people with sickle cell disease and its impact on quality of life: Qualitative findings from focus groups’, British Journal of Health Psychology, vol. 7. No. 3, pp. 345-363.
World Health Organization 2006, Fifty-Ninth World Health Assembly: Provisional agenda item 11.4, World Health Organization, Washington, DC.