Sickle Cell Anemia refers to an inherited health condition characterized by insufficient red blood cells to distribute enough oxygen throughout the body. In normal people, the red blood cells are round and flexible, which makes them move easily through the body vessels. Even so, for people with sickle cell anemia, the red blood cells are sticky, rigid and shaped like crescent moons. It is easy for these irregular shaped cells to get stuck in the tinny blood vessels hence blocking or slowing blood and oxygen flow to certain body parts. Currently, there is no successful cure for this disease. However, there are numerous therapies and treatment options, which can help, alleviate pan and prevent further complications connected to this disease.
Age and prevalence of the disease
According to the records of medical history, sickle cell disease was discovered in 1910, primarily in people of African origin. This means it is now 109 years old. Both globally and in the United States, sickle cell anemia is the most common form of inherited disorder. However, the prevalence of this disease in the United States versus the world differs greatly (Niihara 2019). In the United States, it is estimated that at least 100,000 people are suffering from sickle cell anemia. On the other hand, roughly 5% of the global population constitutes carriers of haemoglobinopathies, a gene responsible for sickle cell disease. Moreover, each year, an estimated 300 000 babies are born with major haemoglobic disorders (Genetics Home Reference (GHR). 2019).
Delegate your assignment to our experts and they will do the rest.
General Symptoms
The general signs and symptoms of sickle cell anemia include anemia, pain and recurrent infections. Normally, these symptoms range from mild to severe. The first symptom, anemia is a situation whereby a person has very low count of red blood cells in the blood. This is the most common early sign and symptom of sickle cell anemia. This symptom occurs when the crescent shaped cells break apart and die soon before the body replenishes them (Genetics Home Reference (GHR). 2019). The result is a quick shortage of red blood cells that leads to inadequate oxygen delivered throughout the person’s body. Then, this makes the person to start experiencing frequent fatigues. The second common symptom of sickle cell anemia is episodes of chronic pain known as crises. These crises appear when the crescent shaped red blood cells are stuck inside the small blood vessels hence interfering with blood flow to the bones, chest, joints and abdomen . These episodes of pain tend to last from hours to weeks. In situations where the pain is severe, the pain may require hospitalization. The frequency of these crises varies from one patient to another based on the severity of the disease (Niihara 2019). Individuals suffering from sickle cell anemia are highly vulnerable to bacterial infections. A good example includes the bacteria responsible for blood infections and meningitis. In children and infants, such infections constitute the leading cause of death. However, prophylactic penicillin and immunization can be administered for prevention purposes. Sometimes, the crescent shaped blood cells may damage an individual’s spleen. This organ is solely responsible for fighting infections within the body. If damaged, it can make the individual greatly prone to both life threatening (for instance pneumonia) and mild infections . Usually, these signs and symptoms begin during the early childhood stage of growth. Also, they vary from patient to patient. While some patients may report mild symptoms, others may experience serious complications that warrant hospitalization (Knot 2017).
Patient Support/Lifestyle Information
The Sickle Cell Society is the leading international organization created to support and represent people suffering from sickle cell anemia to enhance their quality of life. In the United States, the Sickle Cell Society is the only national charity institution that supports and represents these patients. The organization provides the patients with advice, information, respite, advocacy, motivational talks, support services and patient education trainings and seminars (Knot 2017).
The Genetic Component
Sickle cell anemia is triggered by a gene mutation which generates suckle hemoglobin, a substance that affects the proper functioning of the red blood cells within the body. Normally, the parents tend to transfer this mutation in an autosomal recessive pattern. The gene responsible for the damaged red blood cells and hemoglobin is called the hemoglobin S gene. An individual inherits this gene when both parents carry the gene mutation. This pattern of inheritance is referred to as autosomal recessive pattern. Autosomal is when the mutation is not particular to the Y or X chromosome hence it can affect both males and females equally (Knot 2017). Recessive implies that both the father and mother have the mutation so the child will definitely have sickle cell anemia. Usually, both parents tend to be asymptomatic and hence might fail to learn that they are the carriers of the mutation. All children belonging to the couple will have equal chances of inheriting the gene mutation (Genetics Home Reference (GHR). 2019). This is regardless of whether the previous children were affected or not. Given that, only one parent is the carrier of the mutation, and then the children could have what is known as a sickle cell trait . Usually, off springs with a single gene mutation tend to be healthy and do not necessarily have to suffer major side effects. Nevertheless, these children will remain carriers of the disease and if married to a partner with the sickle cell trait, could transfer the full sickle cell anemia to their off springs.
Cited References
Genetics Home Reference (GHR). 2019. Sickle cell disease. Available from https://ghr.nlm.nih.gov/condition/sickle-cell-disease
Knot, L. 2017. Sickle Cell Disease. Available from https://patient.info/allergies-blood- immune/sickle-cell-disease-sickle-cell-anaemia
Niihara, Y. 2019. Understanding Sickle Cell Disease. Available from https://www.news- medical.net/health/Understanding-Sickle-Cell-Disease190613.aspx
Cited References
Genetics Home Reference (GHR). Sickle cell disease. (2019). Available from https://ghr.nlm.nih.gov/condition/sickle-cell-disease
Knot, L. Sickle Cell Disease. (2017). Available from https://patient.info/allergies-blood-immune/sickle-cell-disease-sickle-cell-anaemia
Niihara, Y. Understanding Sickle Cell Disease. (2019). Available from https://www.news-medical.net/health/Understanding-Sickle-Cell-Disease190613.aspx
National Heart, Lung and Blood Institute (NHLB). Sickle Cell Disease. (2019). Available from https://www.nhlbi.nih.gov/health-topics/sickle-cell-disease
