Pathophysiology
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Module9.edited1.docxRunning Head: SICKLE CELL DISEASE 1
SICKLE CELL DISEASE 3
Hematological Disorders
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Sickle cell disease (SCD) is a disorder of the blood that is inherited from persons with the disease or trait to their offspring. The commonest type of these disorders is sickle cell anemia which is an abnormality in the protein hemoglobin which carries oxygen to the tissues. This disease arises as a result of mutations of the genes that determine formation of hemoglobin. It occurs when a person has inherited 2 abnormally formed copies of beta hemoglobin gene. Problems associated with sickle cell disease arise at the age 4-6 months. These problems include anemia, bacterial infections, joint swelling, painful attacks and stroke. Diagnosis is made through blood tests which include sickling test, full hemogram, and peripheral blood film.
Pathophysiology
This disease is caused by loss of elasticity by RBCs. Compared to the normal and healthy red blood cells which are biconcave and elastic, the sickle cell red blood cells have a sickle shape which makes them loose their elasticity and make it difficult for them to pass through the blood cell. Low oxygen tension in sickle cell disease promotes sickling of red blood cells and also repeated sickling damage of their cell membranes hence making them loose their wall elasticity. After restoration of normal oxygen tension, the red cells fail to recover their shape, these cells block capillaries leading to hypoxia and later ischaemia. Anemia occurs when the hemolysis occurs to the abnormal cells. Although the bone marrow tries to compensate, it can’t meet the rate at which these cells are destroyed.
Etiology
Clinical manifestations
These symptoms start appearing 4-6 months of age, they vary in different people. These symptoms include; anemia, painful crisis especially in long bones, swelling in joints, frequent bacterial infections, delay in growth and puberty, and visual problems (Kato, et. al, 2018).
Anemia is pale appearance of the patient. This symptom is produced when the abnormal red blood cells are destroyed in the spleen. The bone marrow tries to compensate the lost red blood cells but fails to reach the rate at which the cells are destroyed. Anemia is characterized by pale mucus membranes, fatigue and headaches.
Episodes of pain in a sickle cell patient mostly occur in long bones. This occurs when the sickle cells block small blood vessels and capillaries that are found in the abdomen, chest and joints. Pain results from pooling and ischemia in the tissues. Swelling of the feet and the hands also results from pooling of blood after the sickle cells have blocked back flow of blood from the extremities
Frequent infections occur when the spleen is damaged. This leaves the patient more vulnerable to infections since no formation of white blood cells that fight infections in the body. Children with sickle cell disease should be given vaccination to life threatening infection. Delayed puberty is also a manifestation of sickle cell disease, this is because the body tissues are not getting enough oxygen needed for their growth. This slows growth in these patients. Another manifestation is the visual problems that occur as a result of damage of the retina. The capillaries that supply the eye become plugged cutting of blood supply
Treatment
The main aim of sickle cell treatment is to relieve pain and reduce pain episodes, relieve any other symptoms and also complications. The treatment involves medications, stem cell transplant and blood transfusions
Medications used in sickle cell disease include, hydroxyurea, which reduce need for blood transfusion, hospitalization and painful crisis. These drugs are contraindicated in pregnancy and also increase risk of infections. Example of hydrooxyurea is hydrea. Other medications used include; pain relieving medications such as narcotics, and voxelotor.
Antibiotics like penicillin are given to the patients to prevent secondary infections such as pneumonia and meningitis. Vaccination of children as recommended by WHO is more important in children with sickle cell since they are at risk of infections. Malaria prevention among these patients is crucial
Packed red blood cells should be transfused to a sickle cell patient when their hemoglobin level decrease by 2g/dl of blood from the base line. Bone marrow transplant is the main definitive treatment where the bone marrow of the patient is replaced with a healthy one which doesn’t have sickle cell (Niihara, et. al, 2018).
References
Kato, G. J., Piel, F. B., Reid, C. D., Gaston, M. H., Ohene-Frempong, K., Krishnamurti, L., ... & Vichinsky, E. P. (2018). Sickle cell disease. Nature Reviews Disease Primers, 4(1), 1-22.
Niihara, Y., Miller, S. T., Kanter, J., Lanzkron, S., Smith, W. R., Hsu, L. L., ... & Guillaume, E. (2018). A phase 3 trial of l-glutamine in sickle cell disease. New England Journal of Medicine, 379(3), 226-235.
