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Sickle Cell Anemia

By comedienne10 Jun 24, 2009 840 Words
Sickle cell anemia is a genetic blood disorder which is inherited from both parents, that causes red blood cells in patients to be sickle-shaped. This causes the red blood cells to clump together, and be unable to retain oxygen. Sickle cell anemia was first noted in 1910, and is thought to have evolved as a way for the body to naturally fight malaria. It is most prevalent in Africa, India, the West Indies and the Mediterranean, places where malaria is more common. In this country, it is most prevalent in African Americans, affecting approximately 1 in 400.

The most common method of diagnosing sickle cell anemia is through DNA analysis. because the disease is inherited from both parents, most states will do a mandatory screen for sickle cell at birth. If both parents carry the gene, the child will get the disease. If only one parent carries the gene, the child will inherit the trait, but the disease itself will not manifest.

Sickledex Hgb S is a preliminary blood test that can detect sickle-shaped cells. If cells are detected, the doctor will move to hemoglobin electrophoresis. This test identifies abnormal forms of hemoglobin, and will help the doctor determine which form of the disease the patient has, along with the severity.

Arguably the most severe complication of sickle cell anemia is what is known as the sickling episode. The pain that results from such an episode has been described as, “more severe than post-operative pain, and as intense as cancer pain.” when the patient is tired, stressed, dehydrated, been exposed to temperature extremes, or has been smoking or exposed to cigarette smoke, a sickling episode can be triggered. When this happens, the deoxygenated cells become sickle-shaped, clumping together due to a blood vessel wall protein called thrombospondon. These clumps are unable to pass through the blood vessels, which have also constricted. The shape of the blood cells causes them to stab at the walls of the vessels, causing great pain, and also blocking normal blood cells from passing. This pain is normally felt in the chest, lower back, thighs, hips, knees and abdomen. These episodes can last as little as hours, or as long as weeks. The lack of oxygen in the blood vessels can also cause a number of other malfunctions in the body. The heart, brain, lungs, kidneys, liver, sex organs, joints, essentially all of the body’s functions will begin to break down if the sickle cells don’t allow adequate amounts of oxygen to reach the rest of the body.

The methods of treatment for sickle cell anemia can vary, depending on the age and size of the patient. While there is no cure, there have been effective treatments with hydroxyurea involving some adult sickle cell patients. Hydroxyurea is a drug that blocks an enzyme produced by human cells that makes building blocks for multiplying cells. This helps reduce the frequency of severe pain episodes and the need for blood transfusions.

There are ways to manage the condition, to make sure the patient’s body is accepting as much oxygen as it can. For instance, staying hydrated, not smoking, getting plenty of rest, and maintaining a balanced diet are some of the ways a patient can help protect him/herself from a sickling episode.

Another way the disorder can be fought is through blood transfusions. The patient’s blood must be matched to its donor’s not only by blood type, but by matching the anti-antibody as well. This is determined by race. Because sickle cell is so common in African Americans, there is a large campaign to encourage African Americans without the disease or the trait to donate blood.

In some cases, a simple blood transfusion is not enough. If there are enough damaged red blood cells, some may have to be removed and replaced with healthy ones, since too many red blood cells at once can cause too much iron in the blood. This is called a blood exchange. In this case, an apheresis machine is used to separate and remove blood cells from a patient while at the same time replacing the cells with healthy ones. There are risks involved with blood exchange as well, however. Because more units of red blood cells are required, the risk of infectious disease rises. Plus, blood exchange is more expensive than transfusion, thus limiting further those who might be eligible.

The future of sickle cell research lies in gene therapy. There is much research underway, and the hope is that a cure will be found in the very near future. While a current sickle cell patient may live a very productive life, there is a lot of care and support needed, from family and health care professionals, to make sure this can happen.

Resources:

Cheryl. The Iron Disorders Institute Guide to Anemia. Nashville, TN: Cumberland House, 2003.

“Hydroxyurea - The Body". Body Health Resources Corporation. 6/18/09 .

“Sickle Cell Disease FAQs ". Sickle Cell Disease Association of America. 6/18/09 .

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