Sickle Cell Disorder

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Sickle Cell Disorder

Written by Alyssa Rankin

World Sickle Cell Day took place on June 19th, so now is a perfect time to gain knowledge and raise awareness on Sickle Cell Disorder (SDC). SDC is a condition most of us may have heard before, but do not completely understand…yet!  This disorder affects millions of people throughout the world with an estimated 100,000 Americans affected according to the CDC.  Sickle Cell Disorder is a hot topic in research today.  Scientists are working towards improving the already declining mortality rate related to this disorder.

The Need-to-Knows

Normally, red blood cells are round and flexible and can easily pass through blood vessels.  In the case of sickle cell anemia, the red blood cells are instead rigid, sticky, and crescent shaped.  Because of this the RBCs get stuck in small vessels and block blood flow and oxygen flow to parts of the body. Consequently, a major concern for those with this disease is blood clotting and the potential for a stroke event.  Sickle Cell Disease, often referred to as Sickle Cell Anemia, is a group of disorders that causes red blood cells to become misshaped and break down. This is an inherited form of anemia. Therefore, to be affected, an individual contains two copies of the sickle cell gene.

A Cure?

Unfortunately, there is not a cure for people with sickle cell anemia. However, there are treatments that can relieve the pain and complications associated with this disease. Some treatment plans include antibiotics to prevent any diseases that may increase metabolic demand, increase blood/oxygen demand and consequently increase risk of complications in blood vessels.

 

Do I Have it?

A simple blood test can check for the defective form of hemoglobin that underlies sickle cell anemia.  Blood samples are collected and sent to a lab to be screened.  If, the test is negative, there is no sickle cell gene present. If the test is positive then there will be further screenings to determine whether or not there are one or two sickle cell genes present. There must be two sickle cell genes in an individual for them to show signs and symptoms of the disorder.

One Copy

A person with the sickle cell trait is called a “carrier”. This means that your body produces both normal and abnormal hemoglobin.  Sickle cell trait a benign condition, but people may have rare complications related to blood flow and clotting, specifically increased risk during exercise. Couples who are planning to have children and know that they are at risk of having a child with sickle cell disease may want to meet with a genetics counselor who can advise on the risk and explain the choices that are available.

How to Manage

There is not a real cure for this disease but the closest potential cure is a bone marrow transplant, though finding a donor is difficult.  Vaccines, blood transfusions, and even gene therapy can be treatment for this disease, but of course there is always risk. If you or someone in your family has sickle cell anemia, you may need and want help with the stresses of this disease. Consider finding someone to talk with for support, explore way to cope with the pain associated with the disease, and educate yourself and those around you to learn as much as possible about the disease.

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Sources
CDC. (2017). Sickle Cell Disorder. Retrieved on https://www.cdc.gov/ncbddd/sicklecell/data.html

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