The term sickle cell anemia

The phrase sickle cell anemia refers to a type of genetic red blood cell disorder. This condition affects hemoglobin, a molecule responsible for transporting and delivering oxygen to molecules and other regions of the body. Individuals with this illness have hemoglobin S, an unusual hemoglobin that can twist red blood cells into a crescent or sickle shape. This condition manifests itself through signs and symptoms that appear as early as childhood. The severity of these symptoms varies from person to person because some people are regularly hospitalized while others have moderate symptoms. The signs and symptoms of sickle cell disease is caused by the alteration in shape of the red blood cells, as a result the cells are broken down prematurely and can potentially lead to anemia.

Pathophysiologic processes

This is a molecular mechanism by which the deoxy form of hemoglobin polymerizes and forms a long chain of fibers in the red cells to make it fragile. This explains the cases of hemolytic anemia. The disease is an inherited gene that is recessive that results from the mutations of B globulin gene. As a result of the mutations, glutamic acid changes to valine. The resulting hemoglobin is called HbS. Some of the properties of this HbS is that it is easily polymerized with other hemoglobin molecules when the concentration of oxygen is low due to the fact that its physiochemical property is abnormal. This action has a negative effect on the number of red blood cells (Carol, 2011).

When there is low oxygen in the circulation system, sickle cell becomes more insoluble thus facilitating polymer formation in the blood. This process leads to formation of tactoids, haemoglobin that exists in its soluble state. The formation of this hemoglobin in liquid state depends on factors such as presence of oxygen, other hemoglobin and the concentration of HbS. After some time, membranes of the cells of the cells are damaged permanently resulting to the biconcave shape exhibited by sickle cells. This happens even when the blood is exposed to sufficient levels of oxygen.

Clinical manifestation and complications

Vasco- Occlusive Crisis. This is the most common manifestation of the Sickle cell disease. The condition occurs when the Sickle red blood cells obstruct microcirculation in the body. The organ that is being supplied thus experiences pain due to ischemic injury. The clinical manifestations of sickle cell disease as from six months of age and above. The disease becomes evident of complications (Miriam, 2009).

There is severe deep pain. Severe deep pain is experienced in the extremities of long bones. There is abdominal pain that is severe and this that may be transferred from the other sites. There is also pain that can affect every body part such as joints, abdomen and bones. This pain can repeat frequently in the spleen. Persons with sickle cell disease also experience low level pains majorly in bones and joints.

Complications

There are three major complications that are associated to sickle cell disease. These complications include sickle cell crisis, multiple organ damage and anemia. One of the complications is anemia. This disease is due to hemolysis of red blood cells of erythrocytes with HbS in spleen. This makes it possible for red blood cells in sickle cell disease to have a short lifespan as compared to hemolytic anemia (Castro, 2011).

The second complication caused by sickle cell disease is Sickle cell crises. This results from the increase in viscosity of the blood that ultimately causes blockages in blood vessels. Grouping together of these cells disrupt the flow of oxygen and restrict supply to tissues that require oxygen use. This can result into severe pain known as sickle cell crisis.

Organ damage can as well occur to patients with HbS after extended period of time. The result can potentially affect organs such as skeletal muscles, heart, muscles, the heart, kidney, lungs among others.

Risk factors

Sickle cell disease is a genetic disorder. Interesting genes from parents is one of the risk factors that cause the disease. The gene that is responsible for causing this disease is Sickle haemoglobin gene. Sickle cell anemia is the disease that causes development of the abnormal hemoglobin. This is the protein that attaches to oxygen and carries it from the lungs to other parts of the body (Miriam, 2009).

Sickle cell disease Diagnosis

Blood tests can be carried out to check for condition of the blood. The results can be in indicating a sickle cell carrier or being at risk of having a child with sickle cell disease. The test can be done in two methods namely screening during pregnancy and newborn screening. Screening during pregnancy is to check whether the baby is at risk of being born with a sickle cell disease. Newborn screening is majorly done t indicate if the baby has sickle cell disease during pregnancy. This test will also show if the baby is a carrier of sickle cell disease. This will as well identify the other inherited conditions that might be present.

References

Castro O. L. (2011). Acute chest syndrome: sickle cell disease.

Miriam B. (2009)Understanding Sickle Cell Disease (Understanding Health and Sickness Series).

National Heart, Lung and Blood Institute (2015). How Sickle Cell Disease is Treated.

Retrieved on 7 June 2017.