Sickle cell disease is a disorder that is caused by distortion of red blood cells in the body forming a sickle like shape. This is caused by the destruction of hemoglobin which is the molecule contained in red blood cells and responsible for oxygen delivery to all cells and parts in the body. When an individual is infected, the molecule called hemoglobin S is formed in the body. The disease has various genetic modifications that transpire in the body. There are four types of protein sub-units which are contained in the hemoglobin. They are divided into two major subunits called beta-globin and two other major subunits referred to as alpha-globin.
It should be noted that hemoglobin subunit beta (HBB) is the gene responsible for sickle cell disease. The manufacture of beta-globin is directed by the HBB gene. When HBB gene undergoes various mutations, different versions of beta-globin are formed (Anthony 23). When one specific form of HBB gene undergoes mutation and produces an abnormal version of beta-globin component; this component is referred as hemoglobin S (HbS) responsible for sickle cell disease. There are other forms of abnormal mutations of HBB gene that lead to additional forms of beta-globin; for instance, hemoglobin E (HbE) and hemoglobin C (HbC). Sickle cell disease attacks an individual when hemoglobin S substitutes at least one subunit of beta-globin. However, in the common manifestation of sickle cell disease; the sickle cell anemia, both subunits of beta-globin versions are replaced by hemoglobin S. There are various abnormal beta-globin versions which distorts red blood cells into formation of sickle shape. These sickle shaped red blood cells always die prematurely and in most cases they result into anemia. In other instances, the sickle shaped, inflexible cells do get stuck in the body in small blood vessels in a case of a serious health complication (Debra 11).
Sickle cell is a common hereditary disease all over the world with majority of those suffering the disease being African Americans. Research indicates that, one in 100 Hispanic and one in 12 African Americans have sickle cell traits hence, carriers of sickle cell disease. As observed above, the abnormal mutations of hemoglobin which is found on chromosome 11 are the causes of sickle cell disease. Normally, red blood cells are smooth and round shaped (hemoglobin A) for smooth glide in the blood cells. When the abnormal mutation occurs and forms the hemoglobin S, they stick and attach to each other forming a long rod-like structures. Red blood cells therefore become stiff forming a sickle like shapes as a result of these structures. As a result of these structures, red blood cells are piled up causing blockages as well as damages to other essential organs and tissue (Anthony 25).
Sickle cells as stated above die prematurely while others are easily destroyed especially in people who have the disease consequently causing anemia. This anemia component is the one which qualifies the condition famously known as sickle cell anemia. When sickle cells block the free and smooth flow of blood through the vessels, it causes lung tissue damage resulting to chest syndrome, stroke, pain episodes and priapism- prolonged erection and painful. This condition also causes severe damages to the liver, spleen and kidneys. When the spleen is damaged especially in young children, they become susceptible to bacterial infections. Since we indicated above that the disease is hereditary, a child born with the disease inherits the gene disease from the parents. There is over 25 percent likelihood that each child will be born with sickle cell anemia if their parents are carriers of the abnormal hemoglobin S gene. 50 percent is the chance that a child will be infected with sickle cell disease if he inherits only one copy of the abnormal gene from either the father or mother. They are people who only carry the sickle cell traits but are not infected with sickle cell disease, yet they are potential candidates for transmitting the disease to their new born (Robert and Tyler 84).
Back then, those suffering from sickle cell disease could not survive beyond childhood. Currently, there has been preventative drug treatments, aggressive research and improved medical care where half of sickle cell disease patients are able to live beyond 50 years. Such treatments for this disease include pain management, use of antibiotics and blood transfusions. When the drug treatment is used- hydroxyurea, it stimulates the production of fetal hemoglobin mostly because it is an anti-tumor drug. Fetal hemoglobin is an important component in the body which helps in prevention of “sickling” of red blood cells. When a patient is treated with hydroxyurea, exhibits fewer acute chest syndrome attacks and requires fewer blood transfusions. At present, the only cure for sickle cell anemia is bone marrow transplantation (Anthony 33). In this sensitive procedure, only a genetically compatible and healthy sibling can transplant bone marrow to the sick person. However, the chances for such transplant is minimal since only 18 percent of children born with sickle cell disease have compatible and health siblings. In addition, the procedure for bone marrow is a sensitive and delicate procedure which is accompanied by many complications even after success of transplantation (Debra 16).
Debra, Vedro. Origin and Distribution of Sickle Cell Disease, Texas Department of Health, United States. 2002. Print.
Robert, Behrens and Tyler, Childs. Sickle Cell Disorders: Evaluation, Treatment and Natural History. Routlege; New York, 2000, Print.
Anthony, Nolan. Sickle Cell Disease and Sickle Cell Anemia, 54 Station Road, Heathgate Publishers, London. Print.