Sickle cell anemia is a genetic disorder that is passed from parent to child. It causes a mutation in protein that forms the majority of a red blood cell, resulting in misshapen proteins and misshapen red blood cells. Instead of having the biconcave shape typical of a red blood cell, sickled cells are shaped like half moons. This leads to many effects in the body.
Background
Sickle cell anemia results from a genetic mutation in the DNA, or genetic material, that codes for red blood cells. The protein hemoglobin, which forms the bulk of each red blood cell, contains an error in sickle cell patients, explain Drs. Reginald Garrett and Charles Grisham in their book, "Biochemistry." The shape of the hemoglobin protein affects the shape of red blood cells, but also affects the ability of the cells to carry oxygen to the tissues.
Significance
The primary significance of pain as an effect of sickle cell anemia is that it indicates organ and tissue damage. Sickled red blood cells can't pass through capillaries easily, the way red blood cells of normal morphology are able. Explain Drs. Garrett and Grisham, the sickled cells tend to clot in small vessels, leading to areas of tissue and organ damage. The body responds to the sensation of damage with pain signals.
Considerations
Many of the effects of sickle cell anemia, including pain, are the result of small blood clots and insufficient oxygenation of tissues. MayoClinic.com explains that sickle cell anemia not only leads to pain and organ damage, but can also cause numbness or tingling in the extremities, because the body can't deliver adequate oxygen to tissues. Patients are at greater risk for gallstones, stroke and cardiovascular complications as a result of sickle cell anemia.
Misconceptions
Because one of the common palliative treatments for sickle cell anemia, blood transfusion, helps relieve pain and other symptoms, it can be misconstrued as a cure. In fact, transfusion merely replaces damaged red blood cells with healthy ones from a donor, explains the National Heart Lung and Blood Institute, or NHLBI. Red blood cells have a lifetime of about 120 days, meaning that transfusions must be repeated regularly to provide lasting relief from symptoms.
Prevention/Solution
There is no true cure for sickle cell anemia, since the disease is due to an error in the genetic code. The NHLBI notes that certain medications, such as hydroxyurea, can help relieve symptoms. Bone marrow transplants are options for some patients. The blood is formed in the bone marrow, so replacing diseased bone marrow with healthy marrow from a donor allows the body to make its own supply of healthy red blood cells.
References
- "Biochemistry"; Reginald Garrett, Ph.D. and Charles Grisham, Ph.D.; 2007
- MayoClinic.com: Sickle Cell Anemia
- National Heart Lung and Blood Institute: Sickle Cell Anemia
