This paper explores the genes that are believed to cause sickle cell anemia (SCA) and sickle cell traits (SCT) It looks at how those genes are passed from parents to children. It Also discusses ways that patients diagnosed with this disease can cope.
This paper explores the genes that are believed to cause sickle cell anemia (SCA) and sickle cell traits (SCT) It looks at how those genes are passed from parents to children. It Also discusses ways that patients diagnosed with this disease can cope.
This paper explores the genes that are believed to cause sickle cell anemia (SCA) and sickle cell traits (SCT) It looks at how those genes are passed from parents to children. It Also discusses ways that patients diagnosed with this disease can cope.
Abstract: This paper explores the genes that are believed to cause sickle cell anemia (SCA) and sickle cell traits (SCT). It looks at how those genes are passed from parents to children and discusses the prevalence of SCA and SCT in different cultures. Also discussed are ways that patients diagnosed with this disease can cope in order to live the fullest lives possible without being limited due to this disease.
Running head: Sickle cell anemia
Sickle cell anemia (SCA) disease refers to a collection of genetic blood disorders characterized by hemoglobin variant called HbS. SCA is an autosomal (single gene), recessive disease caused by a point mutation in the hemoglobin beta gene (HBB) found on chromosome 11p15.5 (Nitin, 2010). It is prevalent with approximately 8% of African Americans being carriers (Nitin, 2010). A mutation in HBB results in the production of structurally abnormal hemoglobin called HbS. HbS is an oxygen carrying protein that gives red blood cells (RBC) their characteristic color. Under certain conditions, like low oxygen levels or high hemoglobin concentrations, in individuals who are homozygous for HbS, the abnormal HbS clusters together, distorting the RBCs into sickled shapes. These deformed and rigid RBCs become trapped within small blood vessels and block them, producing pain and eventually damaging organs (Nitin, 2010). Cardinal symptoms are hemolytic anemia, painful episodes, and susceptibility to infection. SCA is characterized by episodes of pain, chronic hemolytic anemia and severe infections, usually beginning in early childhood (Nitin, 2010). Epidemiological data shows that the highest incidence of SCA is in sub-Saharan Africa where the severest forms are often fatal in children under the age of 5 years (Tshilolo, Kafando, Sawadogo, Cotton, Vertongen, Ferster & Gulbis, 2008). Sickle cell anemia is the most common inherited blood disorder in the United States, affecting about 72,000 Americans or 1 in 500 African Americans (Nitin, 2010). SCA is an inherited autosomal recessive disorder characterized primarily by chronic anemia and periodic episodes of pain. Individuals who possess one copy of the normal beta globin gene (HbA) and one copy of the sickle variant (HbS), are referred to as having the sickle cell trait (SCT), but these individuals do not express symptoms of sickle cell disease.
Running head: Sickle cell anemia
Genetic testing available for the disorder is done by screening newborns that have a mother with a sickle cell or hemoglobin C trait. Screening should be preferentially organized using cord blood with a simple yet effective and affordable screening method like isoelectric focusing. If necessary, confirmation of results should be performed using another cost-effective technique such as citrate agar electrophoresis at an acidic pH (Tshilolo, Kafando, Sawadogo, Cotton, Vertongen, Ferster & Gulbis, 2008). When both parents have SCT, there is a one in four chance the offspring will inherit the normal hemoglobin genotype (Hb AA), two in four chance the offspring will have sickle cell trait (HbAS), and a one in four chance the offspring will inherit sickle cell anemia (Brown 2012). SCA is an inherited blood disorder and affects 1 in 500 African Americans (Tshilolo, Kafando, Sawadogo, Cotton, Vertongen, Ferster & Gulbis, 2008). It is prevalent among people whose ancestors come from sub-Saharan Africa, Spanish-speaking regions like South America, Cuba, Central America, Saudi Arabia, Oman, India, and Mediterranean countries such as Turkey, Greece, and Italy (Nitin, 2010). Early intervention is important with the patient presenting sickle cell disease symptoms. Management should include infection prophylaxis with penicillin and malarial prophylaxis, family training to identify early, severe, or persistent symptoms, and the gravity of malarial crises, the evaluation of nutritional status and adequate fluid intake, and the importance of regular medical visits. Improved knowledge of the diagnosis was found to reduce the need for unnecessary and unsafe blood transfusions (Tshilolo, Kafando, Sawadogo, Cotton, Vertongen, Ferster & Gulbis, 2008). Pain control is a big issue for these patients; non-pharmacological approaches could also be considered such as watching TV or music therapy. Any method that the
Running head: Sickle cell anemia
nurse finds helpful should be used and of course the use of opioids, analgesics, and NSAIDS are prescribed for pain management (Brown, 2012). People with SCD can live full lives and enjoy most of the activities that other people do. There are things that people SCD can do to stay as healthy as possible; they can get regular checkups to prevent infections. Illnesses like the flu can quickly become dangerous for a child with SCD. The best defense is to take simple steps to help prevent infections (Nitin, 2010). People with SCD should drink 8 to 10 glasses of water every day and eat healthy food. They also should try not to get too hot, too cold, or too tired. Finding a patient support group or community can be beneficial for the patient. There is no cure for SCA; a combination of fluids, painkillers, antibiotics, and transfusions are used to treat symptoms and complications. SCD is manifested by episode Hydroxyurea, an antitumor drug that has been shown to be effective in preventing painful crises. Hydroxyurea induces the formation of fetal Hb (HbF)a Hb normally found in the fetus or newbornwhich, when present in individuals with SCA, prevents it. A mouse model of SCA has been developed and is being used to evaluate the effectiveness of potential new therapies for SCA (Nikin, 2010). Most people with the disease learn to cope and function in their daily lives. It is helpful to encourage the patient and help them keep a positive attitude.
References
Running head: Sickle cell anemia
Brown, M. (2012). British journal of nursing. Managing the acutely ill adult with sickle cell disease, 21(2), 90-96. Nitin, J. (2010). A review of clinical profile in sickle cell traits. Oman Medical Journal, 25(1), 18. Retrieved from http://www.omjournal.org/ReviewArticle/PDF/201001/Review_OF_Clinical.pdf Tshilolo, L., Kafando, E., Sawadogo, M., Cotton, F., Vertongen, F., Ferster, A., & Gulbis, B. (2008). Neonatal screening and clinical care programmes for sickle cell disorders in subsaharan africa: lessons from pilot studies. Public Health, 9(122), 933-941.