Sickle cell disease is an inherited group of disorders that affects hemoglobin in the blood. Hemoglobin is a molecule in red blood cells that is responsible for circulating oxygen to body cells. The inherited sickle cell genes cause a condition in the blood where there inadequate red blood cells to circulate oxygen throughout the body. Normally, red blood cells are flexible and round in shape. Sickle cell disorder affects the red blood cells such that they become sticky and assume a sickle shape hence the name of the disorder. The disorder is caused by hemoglobin S, which distorts the red blood cells into the sickle-shaped cells (Switzer, et. al, 2006). Sickle cell disorder is associated with varying degrees of anemia and obstruction of small blood capillaries by the distorted red blood cells causing painful crises in the body. Moreover, the disease has numerous symptoms that are identified through diagnostic tests carried out by clinical officers (Nur et. al, 2011). The disease is mainly identified as an inherited disorder since hemoglobin S is inherited from one abnormal hemoglobin carried by an infected parent hence infecting the normal hemoglobin A in the red blood cells.
Common causes of sickle disease are associated with inheritance and genetic mutation. To begin with, the disease results from a genetic mutation that involves a gene known as HBB. The mutation changes one of the amino acids responsible for protein building blocks in hemoglobin. Destroying the proteins makes the molecular binding of the hemoglobin incomplete hence destroying the red blood cell. Consequently, the mutation causes a defect that makes reduces the number of red blood cells hence causing the disorder. Inheritance is also a normal cause where sickle cells are inherited from parent cells or abnormal cells hence affecting the red blood cells (Stuart et. al, 2004).
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The sickle disease affects everyone regardless of age. Since the disorder affects the red blood cells, it deters the ability to carry oxygen. Age is associated with hem rheological changes that induce several disorders in conjunction with the sickle disease (Stuart et. al, 2004). The disease is incurable hence it requires disease management approaches that are costly hence affecting the lifestyle of the patients.
Pathophysiological processes
The pathophysiology involves impaired vascular inflammation, abnormal vascular coagulation, and oxidative stress. It also involves altered blood rheology which is responsible for the acute complications in sickle cell disorder. In adaption, the body reduces the level of red blood cells attracting anemia (Switzer, et. al, 2006).
Clinical manifestation and complications
The following physical signs and symptoms are important as they suggest the presence of the disease. They include abdominal swelling, unexplained severe pain, fever, yellow tint on the skin and symptoms of a stroke. These signs are caused by sickling of the red blood cells making them break prematurely leading to cases of anemia (Nur et. al, 2011). These conditions facilitate organ and skin damage as well. The complications associated with the disease include vision problems, frequent infections and delayed growth since red blood cells are responsible for the growth and the disorder attacks them.
Diagnostics
Among the common laboratory and diagnostic tests used to determine the existence of sickle disease include;
Cellulose acetate electrophoresis
DNA based assays
HPLC fractionation
Chest x-ray
Pulse oximetry
The tests carried out and the observations are substantial for the identification of the disorder in order to employ the necessary disease management approaches that would reduce the severe impact of the identified symptoms (Nur et. al, 2011). In addition, the findings are necessary since they aid in the avoidance of associated complications including acute chest syndrome, organ damage, pulmonary hypertension, and stroke. Furthermore, they facilitate the application of preventive measures including consultation of a genetic counselor for reproductive options and possible treatments, especially for the infants. In conclusion, sickle cell anemia can be prevented if tests are carried out to avoid inheritance.
References
Nur, E., Biemond, B. J., Otten, H. M., Brandjes, D. P., & Schnog, J. J. B. (2011). Oxidative stress in sickle cell disease; pathophysiology and potential implications for disease management. American journal of hematology , 86 (6), 484-489.
Stuart, M. J., & Nagel, R. L. (2004). Sickle-cell disease. The Lancet , 364 (9442), 1343-1360.
Switzer, J. A., Hess, D. C., Nichols, F. T., & Adams, R. J. (2006). Pathophysiology and treatment of stroke in sickle-cell disease: present and future. The Lancet Neurology , 5 (6), 501-512.
